Chromosomal abnormalities in recurrent pregnancy loss and its association with clinical characteristics.

OBJECTIVE: To evaluate the distribution of chromosomal abnormalities in a recurrent pregnancy loss (RPL) cohort and explore the associations between chromosomal abnormalities and clinical characteristics. METHOD: Over a 5-year period, fresh products of conception (POC) from women with RPL were analyzed by single-nucleotide polymorphism (SNP) array at our hospital. After obtaining the information on clinical characteristics, we investigated the associations between the causative chromosomal abnormalities and clinical characteristics by the chi-squared test or Fisher's exact test and logistic regression. RESULTS: A total of 2383 cases were enrolled. Overall, 56.9% (1355/2383) were identified with causative chromosomal abnormalities, of which 92.1% (1248/1355) were numerical abnormalities, 7.5% (102/1355) were structural variants, and 0.4% (5/1355) were loss of heterozygosity (LOH). The risk of numerical abnormalities was increased in women with maternal age ≥ 35 years (OR, 1.71; 95% CI, 1.41-2.07), gestational age at pregnancy loss ≤ 12 weeks (OR, 2.78; 95% CI, 1.79-4.33), less number of previous pregnancy losses (twice: OR, 2.32; 95% CI, 1.84-2.94; 3 times: OR, 1.59; 95% CI, 1.23-2.05, respectively), and pregnancy with a female fetus (OR, 1.37; 95% CI, 1.15-1.62). The OR of pregnancy loss with recurrent abnormal CMA was 4.00 (95% CI: 1.87-8.58, P < 0.001) and the adjusted OR was 5.05 (95% CI: 2.00-12.72, P = 0.001). However, the mode of conception was not associated with the incidence of numerical abnormality. No association was noted between structural variants and clinical characteristics. CONCLUSION: Chromosomal abnormality was the leading cause of RPL. Numerical chromosome abnormality was more likely to occur in cases with advanced maternal age, an earlier gestational age, fewer previous pregnancy losses, and pregnancy with a female fetus.

[Free sialic acid storage disorders with fetal hydrops in a neonate]. / å”¾æ¶²é ¸è´®ç§¯ç—‡ä¼´èƒŽå„¿æ°´è‚¿1例.

A boy, aged 3 hours, was admitted due to a prenatal diagnosis of fetal hydrops at 3 hours after resuscitation for birth asphyxia. Prenatal examination at 5 months of gestation showed massive ascites in the fetus, and after birth, the boy had the manifestations of systemic hydroderma, massive ascites, coarse face, and hepatomegaly. Genetic testing revealed heterozygous mutations in the SLC17A5 gene, and there was a significant increase in urinary free sialic acid. Placental pathology showed extensive vacuolization in villous stromal cells, Hofbauer cells, cytotrophoblast cells, and syncytiotrophoblast cells in human placental chorionic villi. The boy was finally diagnosed with free sialic acid storage disorders (FSASDs). This is the first case of FSASDs with the initial symptom of fetal hydrops reported in China. The possibility of FSASDs should be considered for cases with non-immune hydrops fetalis, and examinations such as placental pathology and urinary free sialic acid may help with early diagnosis and clinical decision making.

Monochorionic quadramniotic and triamniotic pregnancies following single embryo transfers: two case reports and a review of the literature.

PURPOSE: The purpose of this study is to report two cases of monozygotic quadruplet and triplet pregnancies following single embryo transfer (ET). METHODS: A 29-year-old woman and a 34-year-old woman underwent ART treatment in two affiliated University based ART units. The first woman underwent ICSI with day 3 embryo biopsy for pre-implantation genetic diagnosis (PGD) followed by day 4 transfer, which resulted in a monochorionic quadramniotic (MCQA) quadruplet pregnancy. The second woman underwent conventional IVF with transfer of a single blastocyst, which resulted in a monochorionic triamniotic (MCTA) triplet pregnancy. RESULTS: The first patient underwent successful selective foetal reduction at 16 + 3 and 17 + 4 weeks of gestation. Two healthy twin girls were delivered by elective caesarean section at 35 + 6 weeks of gestation. The second patient underwent successful selective foetal reduction at 14 + 1 weeks of gestation. The remaining monochorionic diamniotic (MCDA) twins are well at the time of writing this article. CONCLUSIONS: To our knowledge, these cases represent the first case of viable MCQA pregnancy following single ET in the world and the third case of a viable MCTA pregnancy following conventional IVF with single ET. Several factors including blastocyst stage transfer and zona pellucida manipulation have been thought to contribute to monozygotic twinning in the context of ART. These two cases add to the growing literature of monozygotic multiple pregnancies following ART.

Intrapartum interventions for singleton pregnancies arising from assisted reproductive technologies.

OBJECTIVE: To assess whether singleton pregnancies conceived by assisted reproductive technology (ART) are associated with an increased use of intrapartum interventions when compared with spontaneous singleton pregnancies. METHODS: In total, 1327 ART pregnancies and 5222 spontaneous pregnancies during the period 2004 to 2008 were extracted from BORN (Better Outcomes Registry and Network) Ontario's information system. The incidences of common intrapartum interventions were compared, and different classification systems for Caesarean section were used to compare the indications for these between singleton pregnancies following ART with or without intracytoplasmic sperm injection and singleton spontaneously conceived pregnancies. RESULTS: Compared with spontaneous singleton pregnancies, the ART group had increased incidences of internal electronic fetal monitoring (OR 1.60; 95% CI 1.37 to 1.87), artificial rupture of membranes (OR 1.39; 95% CI 1.17 to 1.66), oxytocin augmentation of labour (OR 1.51; 95% CI 1.28 to 1.77), induction of labour (OR 1.31; 95% CI 1.14 to 1.50), and Caesarean section (OR 1.40; 95% CI 1.24 to 1.60). CONCLUSION: Singleton pregnancies resulting from ART were associated with more frequent use of several intrapartum interventions, including Caesarean section.

Objectif : Déterminer si les grossesses monofœtales attribuables aux techniques de procréation assistée (TPA) sont associées à une hausse du recours à des interventions intrapartum, par comparaison avec les grossesses monofœtales spontanées. Méthodes : Au total, 1 327 grossesses attribuables aux TPA et 5 222 grossesses spontanées s'étant déroulées au cours de la période 2004-2008 ont été extraites du système informatique BORN (Better Outcomes Registry and Network ou, en français, « bons résultats dès la naissance ¼) de l'Ontario. L'incidence des interventions intrapartum courantes a été comparée et divers systèmes de classification des césariennes ont été utilisés pour en comparer les indications dans le cadre des grossesses monofœtales attribuables aux TPA (avec ou sans injection intracytoplasmique d'un spermatozoïde) et dans le cadre des grossesses monofœtales spontanées. Résultats : Par comparaison avec le groupe « spontanée ¼, le groupe « TPA ¼ présentait une hausse de l'incidence du monitorage fœtal électronique interne (RC, 1,60; IC à 95 %, 1,37 - 1,87), de la rupture artificielle des membranes (RC, 1,39; IC à 95 %, 1,17 - 1,66), de l'accélération du travail au moyen d'oxytocine (RC, 1,51; IC à 95 %, 1,28 - 1,77), du déclenchement du travail (RC, 1,31; IC à 95 %, 1,14 - 1,50) et de la césarienne (RC, 1,40; IC à 95 %, 1,24 - 1,60). Conclusion : Les grossesses monofœtales attribuables aux TPA ont été associées à une utilisation plus fréquente de plusieurs interventions intrapartum, dont la césarienne.

Assisted reproductive technology and placenta-mediated adverse pregnancy outcomes.

OBJECTIVE: To estimate whether the use of specific types of assisted reproductive technology (ART) is associated with an increased risk of placenta-mediated pregnancy complications, which include preeclampsia, stillbirth, small for gestational age at birth, and placental abruption. METHODS: A population-based retrospective cohort study was conducted on singleton pregnancies conceived by different types of ART based on the 2004-2007 Ontario Niday Perinatal Database. Patients with fetal anomalies and maternal health problems were excluded as important confounders. Three exposed groups were created by the subtype of ART, including in vitro fertilization with or without intracytoplasmic sperm injection, intrauterine insemination, and ovulation induction. The nonexposed groups were the singleton pregnancies conceived naturally. For each exposed woman, four women from the nonexposed group were randomly matched by maternal age and parity. RESULTS: There were 2,118 exposed participants and 8,420 matched nonexposed participants in the study. The sample size provided 80% power for a relative risk of 2.0 of placenta-mediated adverse pregnancy outcomes with ART. After adjustment of potential confounders, including smoking, delivery hospital level, initiating time of prenatal care, average neighborhood income, fetal sex, and previous cesarean delivery, there was no association observed between different types of ART groups and the composite of placenta-mediated pregnancy complications. Intrauterine insemination was associated with a significantly increased risk of preeclampsia (12 [2.67%] odds ratio 2.2, 95% confidence interval 1.04-5.04) compared with the corresponding control group (23 [1.29%]). CONCLUSION: Assisted reproductive technology is not associated with an increased risk of the composite outcome of placenta-mediated pregnancy complications among singleton pregnancies. LEVEL OF EVIDENCE: II.

Perinatal outcomes of normal cotwins in twin pregnancies with one structurally anomalous fetus: a population-based retrospective study.

We examined the impact of the presence of one anomalous fetus in a twin pregnancy on perinatal outcomes in the normal cotwin. Perinatal outcomes in cotwins with an anomalous twin and cotwins without an anomalous twin were compared using data from the 1995 to 1997 United States Matched Multiple Births dataset. The two groups were matched by maternal age, parity, birth order, gender, and sex concordance (1:4 matching). The risks of preterm birth, low birth weight, small-for-gestational-age birth, fetal distress, the use of assisted ventilation, low Apgar score, fetal death, neonatal death, and infant death in the 3307 normal cotwins with a twin affected by structural anomalies were significantly higher than those of the 12,813 matched cotwins without an anomalous twin. The presence of one structurally anomalous fetus in a twin pregnancy increases the risks of adverse perinatal outcomes in the cotwin without a fetal anomaly.

Monochorionic twins with unequal placental sharing: why can the outcome still be favorable?

OBJECTIVE: In monochorionic diamniotic (MCDA) twin pregnancies, unequal placental sharing does not always lead to adverse outcomes. The aim of this study is to investigate how unequal placental sharing may be compensated by placental anatomical changes. METHODS: Between January 2012 and July 2013, a total of 60 uncomplicated MCDA pregnancies ending in live birth of healthy twins were studied. Placentas were divided into two groups; an equally shared placenta group (placenta territory discordance ≤ 25%, N = 40) and an unequally shared placenta group (placenta territory discordance >25%, N = 20). Angioarchitecture, cord insertion type and the distance between two cord insertions were compared. RESULTS: Vascular anastomoses were seen in all 60 placentas, and 58 placentas (96.7%) had arterioarterial anastomoses (AA). The overall diameter of the AA was larger in the unequally shared placenta group as compared to the equally shared placentas (0.27 ± 0.12 cm versus 0.19 ± 0.1 cm, p < 0.05). The distance between the cord insertions was shorter in the unequally shared group (14.5 ± 6.0 cm versus 18.3 ± 6.5 cm, p < 0.05). CONCLUSION: The absence of adverse outcomes in unequally shared placenta group can be explained by the presence of large AA and shorter distance between cord insertions, protecting the twin with the smaller placental part against growth restriction and other pathology.

[Preliminary study on prenatal diagnosis from coelomic cells using polymerase chain reaction].

OBJECTIVE: To evaluate the number of cells in coelomic fluid by DNA quantitation with picogreen and to establish a new method of prenatal diagnosis for sex-linked disorders in early pregnancy. METHODS: Coelomic fluid and chorionic villi were obtained from 25 women undergoing planned termination of pregnancy. DNA of coelomic fluid was extracted by boiling method and DNA concentration was measured with picogreen, and fetal gender was determined by X and Y-sequence-specific PCR. The results of PCR were compared with traditional cytogenetic analysis of chorionic villi. RESULTS: There were 750-6270 cells in 0.5-3 ml coelomic fluid. Two amplified bands of X and Y were identified simultaneously in the coelomic fluid of male-fetus. Only one band was detected in that of female-fetus. Eleven out of 25 coelomic fluids showed X and Y bands, and the others were one band (X). The overall concordance rate of gender determination between coelomic fluid and chorionic villi was 100%. CONCLUSION: The number of cells in 0.5-3 ml coelomic fluid can completely meet the needs of PCR reactions. Sex determination using cells in coelomic fluid and PCR is reliable, which can be used as a prenatal diagnostic test for sex-linked disorders and has the advantages of high sensitivity and rapidity.

Recent oral contraceptive use and adverse birth outcomes.

OBJECTIVE: To examine the possible association between oral contraceptive use and adverse birth outcomes. STUDY DESIGN: We conducted a population-based cohort study of pregnant women who used oral contraceptives within 3 months before their last menstrual period. Subjects were divided into three groups, according to the interval (0-30, 31-60, and 61-90 days) between the dispensing date and their last menstrual period. For each exposed subject, 4 subjects without exposure to oral contraceptives were individually matched by infant's year of birth and plurality and by mother's age and parity. RESULTS: Oral contraceptive use within 30 days prior to the last menstrual period was associated with increased risks of very low birth weight (OR: 3.24, 95% CI: 1.18, 8.92), low birth weight (OR: 1.93, 95% CI: 1.17, 3.20), and preterm birth (OR: 1.61, 95% CI: 1.01, 2.55); however, oral contraceptive use 31-90 days prior to the last menstrual period did not increase the risk of low birth weight or preterm birth. CONCLUSION: Our results indicate the use of oral contraceptives near the time of conception may be associated with an increased risk of low birth weight and preterm birth.