囊胚期胚胎腔內DNA可用於PGD
有效性84%

J Assist Reprod Genet. 2016 Feb 22. [Epub ahead of print]

Molecular analysis of DNA in blastocoele fluid using next-generation sequencing.

Zhang Y1,2, Li N3, Wang L2,4, Sun H5, Ma M2, Wang H2, Xu X2, Zhang W2, Liu Y2, Cram DS6, Sun B7, Yao Y8.

Author information

Abstract

BACKGROUND:

Preimplantation genetic testing (PGT) requires an invasive biopsy to obtain embryonic material for genetic analysis. The availability of a less invasive procedure would increase the overall efficacy of PGT. The aim of the study was to explore the potential of blastocoele fluid (BF) as an alternative source of embryonic DNA for PGT.

METHODS:

Collection of BF was performed by aspiration with a fine needle prior to vitrification. BF DNA was subjected to whole-genome amplification (WGA) and analyzed by high-resolution next-generation sequencing (NGS).

RESULTS:

A high-quality WGA product was obtained from 8 of 11 (72.7 %) samples. Comparison of matching BF and blastomere samples showed that the genomic representation of sequencing reads was consistently similar with respect to density and regional coverage across the 24 chromosomes. A genome-wide survey of the sample sequencing data also indicated that BF was highly representative of known single gene sequences, and this observation was validated by PCR analyses of ten randomly selected genes, with an overall efficiency of 84 %.

CONCLUSION:

This study provides further evidence that BF is a promising alternative source of DNA for PGT.

囊胚期胚胎破卵hatching前胚胎細胞體有收縮現象, perivitelline space有擴大現象
perivitelline space擴大>20%屬強烈收縮----胚胎著床率較低
perivitelline space擴大<20%屬溫和收縮----胚胎著床率較高

https://www.jstage.jst.go.jp/article/jrd/advpub/0/advpub_2015-150/_pdf

Autophagy在卵巢冷凍解凍移植過程扮演部分角色
包括清除壞死卵子細胞, 細胞凋亡, 抗血管血栓

Biol Reprod. 2016 Feb 24. pii: biolreprod.115.136374. [Epub ahead of print]

New Insights into the Role of Autophagy in Ovarian Cryopreservation by Vitrification.

Yang Y, Cheung HH, Law WN, Zhang C, Chan WY, Pei X, Wang Y.

Abstract

Ovarian cryopreservation by vitrification is a highly useful method for preserving female fertility during radiotherapy and chemotherapy. However, cryo-injury, osmotic stress during vitrification, and ischemia/reperfusion during transplantation lead to losses of ovarian follicles. Ovarian follicle loss may be partially reduced by several methods; however, studies regarding the mechanism of ovarian follicle loss have only investigated cell apoptosis, which comprises type I programmed cell death. Autophagy comprises type II programmed cell death, and cell homeostasis is maintained by autophagy during conditions of stress. The role of autophagy during cryopreservation by vitrification has rarely been reported. The potential role of autophagy during ovarian cryopreservation by vitrification is reviewed in this article.

5%DMSO+EG --->10% DMSO+EG可達最佳冷凍效果
(compared to DMSO or EG alone)

J Reprod Infertil. 2015 Jul-Sep;16(3):138-47.

Ultrastructural and Morphalogical Changes of Mouse Ovarian Tissues Following Direct Cover Vitrification with Different Cryoprotectants.

Ghavami M1, Mohammadnejad D2, Beheshti R3, Solmani-Rad J1, Abedelahi A1.

Author information

Abstract

BACKGROUND:

Cryopreservation of mammalian ovaries has been reported with different levels of success. Cryopreservation of ovarian tissue may be a potential alternative for treatment of infertility and many attempts have been done to improve the efficiency of ovarian cryopreservation. The objective of the present study was to compare the direct cover vitrification (DCV) with ethylene glycol (EG), dimethyl sulfoxide (DMSO) and EG plus DMSO.

METHODS:

Eighty five mice were sacrificed by cervical dislocation and their ovaries were cryopreserved in the presence of 5% EG or DMSO alone or as mixture, 10% EG or DMSO alone or as mixture and a group with ascending concentrations of cryoprotectants. After toxicity testing and vitrificationwarming, the ovaries were fixed for histological and ultrastructural studies. In addition, the viability of mechanically isolated follicles was studied by trypan blue staining. All data were compared by ANOVA (p<0.05).

RESULTS:

Ovarian tissues frozen in EG plus DMSO in ascending concentrations retained a higher percentage of morphologically normal and or viable follicles than tissues frozen in 10 M EG plus DMSO or in either concentration of EG and DMSO alone (p<0.001). Ultrastructural analysis of ovarian tissues frozen in ascending concentrations of EG plus DMSO showed that these follicles were well preserved and it was very similar to the control group.

CONCLUSION:

Cryopreservation of ovarian tissue in EG plus DMSO is the most effective method for preserving the structural integrity of follicles within the ovary.

slush氮比傳統液態氮更能有效保存卵巢組織

Fertil Steril. 2016 Feb 19. pii: S0015-0282(16)00084-4. doi: 10.1016/j.fertnstert.2016.01.043. [Epub ahead of print]

Successful slush nitrogen vitrification of human ovarian tissue.

Talevi R1, Barbato V2, Fiorentino I2, Braun S2, De Stefano C3, Ferraro R4, Sudhakaran S2, Gualtieri R2.

Author information

Abstract

OBJECTIVE:

To study whether slush nitrogen vitrification improves the preservation of human ovarian tissue.

DESIGN:

Control vs. treatment study.

SETTING:

University research laboratory.

PATIENT(S):

Ovarian biopsies collected from nine women (aged 14-35 years) during laparoscopic surgery for benign gynecologic conditions.

INTERVENTION(S):

None.

MAIN OUTCOME MEASURE(S):

Ovarian cortical strips of 2 × 5 × 1 mm were vitrified with liquid or slush nitrogen. Fresh and vitrified cortical strips were analyzed for cryodamage and viability under light, confocal, and transmission electron microscopy.

RESULT(S):

Compared with liquid nitrogen, vitrification with slush nitrogen preserves [1] follicle quality (grade 1 follicles: fresh control, 50%; liquid nitrogen, 27%; slush nitrogen, 48%); [2] granulosa cell ultrastructure (intact cells: fresh control, 92%; liquid nitrogen, 45%; slush nitrogen, 73%), stromal cell ultrastructure (intact cells: fresh control, 59.8%; liquid nitrogen, 24%; slush nitrogen, 48.7%), and DNA integrity (TUNEL-positive cells: fresh control, 0.5%; liquid nitrogen, 2.3%; slush nitrogen, 0.4%); and [3] oocyte, granulosa, and stromal cell viability (oocyte: fresh control, 90%; liquid nitrogen, 63%; slush nitrogen, 87%; granulosa cells: fresh control, 93%; liquid nitrogen, 53%; slush nitrogen, 81%; stromal cells: fresh control, 63%; liquid nitrogen, 30%; slush nitrogen, 52%).

CONCLUSION(S):

The histology, ultrastructure, and viability of follicles and stromal cells are better preserved after vitrification with slush nitrogen compared with liquid nitrogen.

輸卵管水腫可能會影響子宮內膜與卵巢之血流供應, 進而下降懷孕率

Eur J Obstet Gynecol Reprod Biol. 2016 Feb 8;199:55-59. doi: 10.1016/j.ejogrb.2016.01.046. [Epub ahead of print]

Effect of hydrosalpinx on uterine and ovarian hemodynamics in women with tubal factor infertility.

El-Mazny A1, Ramadan W2, Kamel A2, Gad-Allah S2.

Author information

Abstract

OBJECTIVE:

To evaluate the effect of hydrosalpinx on uterine and ovarian blood flows in women with tubal factor infertility.

STUDY DESIGN:

In a cross-sectional study at a university teaching hospital, 60 women with hydrosalpinx-related tubal infertility (hydrosalpinx group) were compared with 60 women with male or unexplained infertility (non-hydrosalpinx group). In the mid-luteal (peri-implantation) phase of the cycle, endometrial thickness, uterine and ovarian artery pulsatility index (PI) and resistance index (RI), and endometrial and ovarian volume and 3D power Doppler vascularization index (VI), flow index (FI), and vascularization flow index (VFI) were measured in both groups.

RESULTS:

The endometrial VI (p=0.002), FI (p=0.041), and VFI (p=0.018), and ovarian VI (p=0.011), and VFI (p=0.015) were significantly lower in the hydrosalpinx group than in the non-hydrosalpinx group. However, the endometrial thickness, uterine artery PI and RI, ovarian artery PI and RI, endometrial volume, and ovarian volume and FI were not significantly different between the two groups.

CONCLUSION:

Hydrosalpinx is associated with impaired endometrial and ovarian blood flows which may adversely affect endometrial receptivity and oocyte quality.

懷孕補充葉酸可防止胎兒神經管缺損
無法防止早產

Eur J Obstet Gynecol Reprod Biol. 2016 Feb 8;199:76-81. doi: 10.1016/j.ejogrb.2016.01.042. [Epub ahead of print]

Folic acid supplementation in pregnancy to prevent preterm birth: a systematic review and meta-analysis of randomized controlled trials.

Saccone G1, Berghella V2.

Author information

Abstract

Folic acid (FA) may have a role in the prevention of pregnancy complications. However, the efficacy of FA supplementation in reducing the risk of preterm birth (PTB) is still unclear. The aim of this systematic review with meta-analysis was to evaluate the efficacy of folic acid supplementation during pregnancy to prevent preterm birth (PTB). The research protocol was designed a priori, defining methods for searching the literature in electronic databases, including and examining articles, and extracting and analyzing data. We included all randomized trials (RCTs) of asymptomatic singleton gestations without prior PTB who were randomized to prophylactic treatment with either FA supplementation or control (placebo or no treatment). The primary outcome was the incidence of PTB <37 weeks. Five randomized trials including 5,332 asymptomatic singleton gestations without prior PTB were included in the analysis. Women who received FA supplementation had a similar rate of PTB <37 weeks (22.6% vs 22.9%; RR 0.99, 95% CI 0.82-1.18), PTB<34 weeks (7.1% vs 8.7%; RR 0.77, 95% CI 0.55-1.09) and of preterm premature rupture of membranes (2.4% vs 2.9%; RR 0.81, 95% CI 0.44-1.50) compared with control group. Regarding neonatal outcome we found no significant differences in birth weight (mean difference 85.58g, 95% CI -55.17-226.34), low birth weight (21.0% vs 15.1%; RR 0.79, 95% CI 0.49 to 1.28) and perinatal death (2.9% vs 2.4%; RR 0.90, 95% CI 0.60-1.34). In summary, FA supplementation during pregnancy does not prevent PTB <37 weeks. Daily FA supplementation remains the most important intervention to reduce the risk of neural tube defects.

Single step 培養液比較  
Fert/Sage One Step® (serie SAGE)   VS  single-step CSC®(serie CSC)

囊胚形成率無統計差異  39.9% vs 41.5% 

Gynecol Obstet Fertil. 2016 Feb 18. pii: S1297-9589(16)00028-X. doi: 10.1016/j.gyobfe.2016.01.005. [Epub ahead of print]

[Embryo development in two single-step media: Analysis of 2059 sibling oocytes].

[Article in French]

Durand M1, Sermondade N2, Herbemont C2, Benard J3, Gronier H3, Boujenah J3, Cédrin-Durnerin I3, Poncelet C3, Grynberg M3, Sifer C2.

Author information

Abstract

OBJECTIVE:

The aim of this study was to compare embryo development cultured in two single-step media commercially available: Fert/Sage One Step® (Origio) and Continuous Single Culture® (CSC) (Irvine Scientific).

METHODS:

A prospective auto-controlled study of sibling oocytes from women undergoing conventional in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) was performed in our center from February to June 2015. After fertilization, for every patient, half of oocytes were cultured in the single-step Fert/Sage One Step® (serie SAGE) and the other half in the single-step CSC®(serie CSC). Fertilization and embryo morphology rates were assessed by day 1 to day 5-6 if needed. Embryo presenting<20% of fragmentation and 4 cells at day 2, 8 cells at day 3 were qualified as "top quality". Embryo with<20% of fragmentation and 3-5 cells at day 2, 6-10 cells at day 3 were qualified as "good quality". Blastocyst B3, B4, B5 with A or B inner cell mass and A or B trophectoderm were qualified as "good quality". Transferred or frozen embryos were qualified as useful embryos.

RESULTS:

Sixty-two attempts of IVF and 133 of ICSI were analyzed, corresponding to 2059 inseminated or micro-injected oocytes. Fertilization rate were not different between the 2 series, respectively SAGE vs CSC (IVF: 73.4% vs 68.3% [P=0.49]; ICSI: 58.9% vs 63.8% [P=0.12]). No difference was found for embryo morphology, respectively SAGE vs CSC, at day 2 (top quality embryo at day 2 IVF: 34.4% vs 33% [P=0.98]; ICSI: 42.4% vs 44.9% [P=0.37]; and good quality embryo at day 2 IVF: 44% vs 50.2% [P=0.07]; ICSI: 64% vs 71% [P=0.35]); no difference at day 3 (top quality embryo at day 3 IVF: 19.4% vs 21.3% [P=0.61]; ICSI: 28.7% vs 27.4% [P=0.54]; and good quality embryo at day 3 IVF: 40.4% vs 50.2% [P=0.91]; ICSI: 51% vs 47.6% [P=0.47]). Blastocyst development rate were not different, respectively SAGE vs CSC (IVF: 39.9% vs 41.5% [P=0.63] with 42.9% vs 42.2% of good quality blastocyst [P=0.70]; ICSI: 41.1% vs 37.8% [P=0.18] with 32.9% vs 40.8% of good quality blastocyst [P=0.13]). No difference was found in the useful embryo rate in the 2 series SAGE vs CSC (IVF: 52.8% vs 55.2% [P=0.83]; ICSI: 62.4% vs 61.7% [P=0.70]).

CONCLUSION:

Embryo development and rate of useful embryos, transferred or frozen, were not different according to the embryo culture in single-step media Fert/Sage One Step® vs single-step Continuous Single Culture®.

AMH濃度過高可能是造成多囊性卵巢PCO之原因之一

Eur J Obstet Gynecol Reprod Biol. 2016 Feb 10;199:82-87. doi: 10.1016/j.ejogrb.2016.01.029. [Epub ahead of print]

The role of anti-Müllerian hormone in the pathogenesis and pathophysiological characteristics of polycystic ovary syndrome.

Qi X1, Pang Y2, Qiao J3.

Author information

Abstract

Polycystic ovarian syndrome (PCOS) is one of the major causes of anovulatory infertility. High levels of anti-Müllerian hormone (AMH) in the serum of PCOS patients participate in the major steps of the anovulation, and are related to pathogenesis and pathophysiological characteristic of PCOS, including the interactions of AMH with intra/extra ovarian factors like FSH, LH, androgen, and estrogen, as well as the role of AMH in folliculogenesis of PCOS. AMH promotes follicular atresia which may participate in the follicle pattern in PCOS patients. Recent years, the abnormally increased AMH in serum and follicle fluid of PCOS patients have attracted many scholars' attention. In this review, we summarized the role of AMH played in PCOS patients. It is of great significance for clarifying the role of AMH in the diagnosis and treatment of PCOS patients because AMH has the potential to increase our understanding of ovarian pathophysiology and to guide the clinical management of a broader range of conditions.

陰道細菌感染者IVF懷孕率較低(9%)
陰道細菌感染菌種: Bacterial vaginosis, Gardnerella vaginalis and Atopobium vagina

Hum Reprod. 2016 Feb 23. pii: dew026. [Epub ahead of print]

Abnormal vaginal microbiota may be associated with poor reproductive outcomes: A prospective study in IVF patients.

Haahr T1, Jensen JS2, Thomsen L1, Duus L3, Rygaard K4, Humaidan P5.

Author information

Abstract

STUDY QUESTION:

What is the diagnostic performance of qPCR assays compared with Nugent scoring for abnormal vaginal microbiota and for predicting the success rate of IVF treatment?

SUMMARY ANSWER:

The vaginal microbiota of IVF patients can be characterized with qPCR tests which may be promising tools for diagnosing abnormal vaginal microbiota and for prediction of clinical pregnancy in IVF treatment.

WHAT IS KNOWN ALREADY:

Bacterial vaginosis (BV) is a common genital disorder with a prevalence of approximately 19% in the infertile population. BV is often sub-clinical with a change of the vaginal microbiota from being Lactobacillus spp. dominated to a more heterogeneous environment with anaerobic bacteria, such as Gardnerella vaginalis and Atopobium vaginae. Few studies have been conducted in infertile women, and some have suggested a negative impact on fecundity in the presence of BV.

STUDY DESIGN, SIZE, DURATION:

A cohort of 130 infertile patients, 90% Caucasians, attending two Danish fertility clinics for in vitro fertilization (IVF) treatment from April 2014-December 2014 were prospectively enrolled in the trial.

PARTICIPANTS/MATERIALS, SETTING AND METHODS:

Vaginal swabs from IVF patients were obtained from the posterior fornix. Gram stained slides were assessed according to Nugent's criteria. PCR primers were specific for four common Lactobacillus spp., G. vaginalis and A. vaginae. Threshold levels were established using ROC curve analysis.

MAIN RESULTS AND THE ROLE OF CHANCE:

The prevalence of BV defined by Nugent score was 21% (27/130), whereas the prevalence of an abnormal vaginal microbiota was 28% (36/130) defined by qPCR with high concentrations of Gardnerella vaginalis and/or Atopobium vaginae. The qPCR diagnostic approach had a sensitivity and specificity of respectively 93% and 93% for Nugent-defined BV. Furthermore, qPCR enabled the stratification of Nugent intermediate flora. Eighty-four patients completed IVF treatment. The overall clinical pregnancy rate was 35% (29/84). Interestingly, only 9% (2/22) with qPCR defined abnormal vaginal microbiota obtained a clinical pregnancy (P = 0.004).

PCO多囊性卵巢病患心血管疾病機率較高

Fertil Steril. 2016 Feb 4. pii: S0015-0282(16)00065-0. doi: 10.1016/j.fertnstert.2016.01.024. [Epub ahead of print]

Cardiovascular disease risk in first-degree relatives of women with polycystic ovary syndrome.

Vipin VP1, Dabadghao P2, Shukla M1, Kapoor A3, Raghuvanshi AS3, Ramesh V4.

Author information

Abstract

OBJECTIVE:

To assess the risk of cardiovascular disease (CVD) in the parents of polycystic ovary syndrome (PCOS) patients using carotid intima medial thickness (CIMT) and brachial artery flow-mediated dilatation (FMD).

DESIGN:

Hospital-based case-control study.

SETTING:

Endocrine clinic of a medical institute in India.

PATIENT(S):

Case group of 41 fathers and 45 mothers of PCOS patients (confirmed by Rotterdam's criteria) compared with 42 men and 44 women matched by age, sex and body mass index (BMI) as controls.

INTERVENTION(S):

CVD risk in parents of PCOS patients assessed via CIMT and FMD then correlated with various clinical and metabolic parameters.

MAIN OUTCOME MEASURE(S):

Differences in CIMT and FMD between parents and controls.

RESULT(S):

The CIMT was higher [0.6 (0.54-0.8) vs. 0.5 (0.45-0.55) mm] and brachial artery FMD was lower [11.9% (6.9%-16.2%) vs. 16.7% (13.5%-22.6%)] in the parents of PCOS patients as compared with the controls. Systolic blood pressure, diastolic blood pressure, low-density lipoprotein cholesterol, and fasting and 2-hour plasma glucose were higher in the parents of the PCOS patients. The prevalence of CVD risk factors such as systemic hypertension, diabetes mellitus, abdominal obesity, the metabolic syndrome, and a family history of coronary artery disease in first-degree relatives was also higher in the parents of PCOS patients. The prevalence of diabetes was higher in the fathers of PCOS women, but other cardiovascular disease risk factors, CIMT, and FMD were comparable among the mothers.

CONCLUSION(S):

The parents of PCOS patients have an increased CVD risk as evidenced by increased CIMT and low FMD.

懷孕早期子宮肌瘤生長較懷孕中期快速
此與懷孕早期賀爾蒙HCG濃度快速上升有關

Fertil Steril. 2016 Feb 12. pii: S0015-0282(16)00073-X. doi: 10.1016/j.fertnstert.2016.01.032. [Epub ahead of print]

Growth trend of small uterine fibroids and human chorionic gonadotropin serum levels in early pregnancy: an observational study.

Ciavattini A1, Delli Carpini G2, Clemente N2, Moriconi L2, Gentili C2, Di Giuseppe J2.

Author information

Abstract

OBJECTIVE:

To analyze the growth trend of small uterine fibroids during early pregnancy, evaluating the potential factors involved, with particular interest in hCG levels.

DESIGN:

Observational study.

SETTING:

Tertiary care university hospital.

PATIENT(S):

Women who had an ultrasound diagnosis of small myomas (diameter, ≥10 mm and ≤50 mm) from January 2007 to December 2013, and who subsequently became pregnant within 1 year.

INTERVENTION(S):

None.

MAIN OUTCOME MEASURE(S):

Three additional ultrasound examinations were performed during early pregnancy (7-8, 10-13, and 20-22 complete gestational weeks, respectively) and the modifications in diameter and volume of each uterine fibroid were recorded. A serial evaluation of hCG serum levels from 5-12 weeks was performed.

RESULT(S):

From the 109 women who fulfilled the study inclusion/exclusion criteria, a significant increase emerged, both for volume and diameter of the detected fibroids. Specifically, a median growth rate (GR) of 122% was observed during the interval of the first to the second ultrasound, whereas a median GR of 108% was detected during the interval between the second and the third ultrasound, and a median GR of 25% between the third and the fourth ultrasound. A significant positive correlation between hCG levels and diameter (R = 0.69) of myomas between 5 and 12 weeks emerged.

CONCLUSION(S):

A remarkable nonlinear growth of small fibroids during initial pregnancy was observed, with a faster rate in the first trimester and a slowdown by midpregnancy. Those changes seem to be related to the similar increase of hCG levels until 12 weeks.

VS,TS均25度可達最佳卵子存活率(優於 VS 37度 or TS 37度)

VS: 冷凍液
TS: 解凍液

37度反而增加冷凍液之毒性

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726034/

Effect of temperature of exposure to VS and TS on OCCs.

Oocytes were exposed to different temperatures of VS (25 °C or 37 °C) and TS 

Spindles morphology was improved by employing the optimized key parameters during vitrification.

(A) Different vitrification procedure used in improved and unimproved groups. (B) Representative images of spindles in improved and unimproved group. Green: TUBB; Blue: DNA; Merge: overlay of TUBB and DNA. Scale bar = 10 μm. (C) Oocytes in improved group get higher percent of normal spindles than that in unimproved group. Different superscript letters (a,b) indicate p < 0.01

EG+DMSO10% 可達最佳冷凍效果(優於20, 30%)


http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726034/

解凍過程維持37度(TS+DS+WS medium)可能可提高卵子品質

J Assist Reprod Genet. 2015 Aug;32(8):1197-203. doi: 10.1007/s10815-015-0480-8. Epub 2015 May 10.

Effect of different rehydration temperatures on the survival of human vitrified-warmed oocytes.

Shanshan G1, Mei L, Keliang W, Yan S, Rong T, Zi-Jiang C.

Author information

Abstract

PURPOSE:

To evaluate the effect of different exposure temperatures during the dilution process on the survival rate of vitrified oocytes and following development.

METHODS:

Patients were divided at random into two groups for different dilution temperature (20-22 °C, RT group; 37 °C,37 °C group) according to computer-generated random numbers on the day of oocyte warming. The survival and fertilization rates of vitrified oocytes as well as the implantation and clinical pregnancy rates of the resulting embryos were recorded.

RESULTS:

A total of 662 and 676 oocytes were warmed in the 37 °C group and RT group, respectively, and significant difference was observed in the survival rate between 37 °C group (88.37%) and RT group (79.88%) (P = 0.0000). There was significant difference between the survival rate of 37 °C group (87.27%) and RT group (75.64%) in nondonor patients (P = 0.0001). Multiple linear regression analysis showed that dilution temperature (β = 0.079, P = 0.017) and clinical outcomes of fresh cycles (β = 0.063, P = 0.001) were significantly and independently associated with survival rate. No significant difference was found between the 37 °C group and RT group in: fertilization rate (66.67 versus 65.37%), implantation rate (20.0 versus 19.46%), clinical pregnancy rate (37.5 versus 35.0%).

CONCLUSIONS:

In conclusion, the results of this study give supportive evidence of the application of 37 °C in the dilution process, especially for oocytes of poor quality. Further studies with well-controlled experimental groups are needed to optimize protocols for human oocyte vitrification.

Turner Syndrome (45X0)染色體異常病患仍可自然懷孕, 

懷孕率約5%

但胎兒染色體異常率較一般懷孕為高

Hum Reprod. 2016 Feb 13. pii: dew012. [Epub ahead of print]

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.

Bernard V1, Donadille B1, Zenaty D2, Courtillot C3, Salenave S4, Brac de la Perrière A5, Albarel F6, Fèvre A7, Kerlan V8, Brue T6, Delemer B7, Borson-Chazot F5,Carel JC2, Chanson P4, Léger J2, Touraine P3, Christin-Maitre S9; for CMERC Center for Rare Disease.

Author information

Abstract

STUDY QUESTION:

What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)?

SUMMARY ANSWER:

Amongst 480 women with TS, 27 women (5.6%) had a total of 52 SP, with 30 full-term deliveries for 18 women.

WHAT IS KNOWN ALREADY:

Primary ovarian insufficiency is a classic feature of TS. So far, few studies have evaluated the rate of SP in these patients.

STUDY DESIGN, SIZE, DURATION:

The French Ministry of Health set up a National Reference Centre for Rare Growth Disorders (CRMERC), including TS. We studied a cohort of adult TS patients from seven endocrine units (Saint-Antoine, Pitié-Salpêtrière, Bicêtre, Lyon, Marseille, Brest, Reims Hospitals) belonging to this centre, between January 1999 and January 2014.

PARTICIPANTS/MATERIALS, SETTING, METHODS:

A total of 480 adult patients with TS were included. The patients' clinical characteristics, karyotypes and reproductive histories had been collected, after informed consent, in a web database called CEMARA. Our reference population was issued from a database belonging to the French Health Ministry, collecting pregnancy outcomes in the French general population. In order to find predictive characteristics of SP, TS with spontaneous pregnancies were compared with non-pregnant TS patients from our cohort.

MAIN RESULTS AND THE ROLE OF CHANCE:

There were 27 patients (5.6%) who had a total of 52 SP. The two predictive factors which correlated with occurrence of a SP were spontaneous menarche and mosaic karyotype. The median delay to conception was 6 months (range 0-84). Miscarriage occurred in 16 pregnancies, 30.8% versus 15% in the general French population (P < 0.01). The remaining pregnancy outcomes were legal abortion (n = 2), medical interruption (n = 3), intrauterine fetal death (n = 1) and delivery at term (n = 30). Caesarean section rates were higher than in the general population, respectively 46.7% versus 21% (P < 0.001). Pregnancy-induced hypertensive disorders (PHDs) occurred in four cases (13.3%), including two cases of mild pre-eclampsia (6.7%). Neither aortic root dilatation nor aortic dissection were observed. The median birthweight was 3030 g (range 2020-3460). Two cases of TS were identified in the 17 daughters issued from this cohort.