The effectiveness of cervical cerclage in twin pregnancies with a mid-trimester short cervix: A retrospective cohort study.

OBJECTIVE: To analyze the effectiveness of cerclage in twin pregnancies with a short cervix. STUDY DESIGN: Retrospective cohort study performed in two University Institutions in Valencia (Spain) with two different protocols for the management of asymptomatic dichorionic diamniotic twin pregnancies with mid-trimester cervical length ≤ 25 mm: treatment with indomethacin, antibiotics and cerclage (cerclage group) (N = 43) versus expectant management (control group) (N = 37). RESULTS: The initial cervical length was similar in both groups but detection of a short cervix was performed earlier in the cerclage group (21.6 vs 24.1 weeks, p < 0.001). Women with cerclage had a greater pregnancy latency (12.5 vs. 7.7 weeks, p < 0.001); higher gestational age at delivery (34.1 vs. 31.8 weeks, p < 0.04); less spontaneous preterm birth (SPB) < 28 weeks (11.6 % vs 37.8 %, p < 0.009); higher birthweight (2145 vs 1733 g, p < 0.001); lower birthweight < 1500 g (12.5 % vs 40.0 %, p < 0.001); less admissions to the neonatal intensive care unit (NICU) (24.1 % vs 43.3 %, p < 0.03); shorter stay at NICU (25.6 vs 49.4 days, p < 0.02); lower respiratory distress requiring mechanical ventilation (14.9 % vs 36.5 %, p < 0.02); fewer patent ductus arteriosus (8.9 % vs 26.9 %, p < 0.008); and lower composite adverse neonatal outcome (26.6 % vs. 44.8 %, p < 0.03). Cerclage and gestational age at diagnosis were the only independent predictors of SPB < 32 and < 28 weeks by multivariate analysis. The cumulative data in the literature show promising beneficial effects of cerclage. CONCLUSION: Our data suggest that cerclage in asymptomatic twin pregnancies with a short cervix may reduce the earliest SPB and may improve neonatal outcome.

BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.

The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

Additive effect of factors related to assisted conception on the reduction of maternal serum pregnancy-associated plasma protein A concentrations and the increased false-positive rates in first-trimester Down syndrome screening.

OBJECTIVE: To analyze whether assisted conceptions need adjustments in first-trimester Down syndrome screening and why modifications in screening markers occur. DESIGN: Eleven-year cohort retrospective analysis. SETTING: Maternal-fetal medicine unit. PATIENT(S): Two thousand eleven naturally conceived normal singleton pregnancies and 2,042 normal singleton pregnancies achieved with assisted conception: 350 by IUI and 1,692 with IVF (n = 328) or intracytoplasmic sperm injection (ICSI; n = 1,364), using nondonor (n = 1,086) or donated ova (n = 606), with fresh (n = 1,432) or frozen (n = 260) embryos. INTERVENTION(S): Comparison of ultrasound and biochemical markers of first-trimester Down syndrome screening according to the mode of conception and considering the clinical and laboratory parameters related. MAIN OUTCOME MEASURE(S): Nuchal translucency (NT), PAPP-A and free ßhCG maternal serum concentrations, and false-positive rates (FPRs). RESULT(S): NT is unaffected by the mode of conception. Singleton pregnancies achieved by IVF and ICSI with nondonor oocytes have reduced maternal serum PAPP-A and increased FPR, which are significant only in ICSI cycles. Pregnancies from frozen embryos with hormone therapy also show decreased PAPP-A but without affecting the FPR. Elevated maternal serum fßhCG levels in oocyte donation do not influence the FPR. CONCLUSION(S): Among assisted conceptions, only nondonor IVF/ICSI singleton pregnancies need adjustments of the maternal serum PAPP-A in first-trimester Down syndrome screening.

Evolution of fetal subependymal cysts throughout gestation.

Subependymal cysts are secondary to brain germinal matrix hemorrhage or infarction and are associated with fetal chromosomal and metabolic conditions, as well as infections. They are found in 1-3% of neonates in the first days of life and have been described in fetuses, although much less frequently. We report the prenatal diagnosis of a case of subependymal cysts first visualized at 12 weeks' gestation and its evolution throughout pregnancy and after birth. As far as we know, this is the first time that such a condition is described before 16 weeks' gestation as well as its longitudinal evolution. Knowledge that subependymal cysts can be seen as early as 12 weeks' gestation and their natural evolution is important to avoid equivocal diagnoses. The prognosis of isolated subependymal cysts remains uncertain.

Potential pitfalls in fetal neurosonography.

OBJECTIVE: To present anatomic variants of the fetal brain and artifacts related to scanning techniques that could be misinterpreted as abnormalities on prenatal neurosonographic studies. METHODS: The findings were derived from fetal neurosonographic studies performed routinely from 16 to 36 weeks' gestation during the last 3 years, supervised by a sonologist specialized in neonatal cranial sonography. RESULTS: The pitfalls were divided into three groups: brain parenchyma, ventricular system and choroid plexus. We provide images of these pseudolesions and clues to their differentiation from true brain pathology. CONCLUSIONS: Knowledge of misleading images seen on fetal neurosonographic studies that could be misinterpreted as lesions is essential for the proper interpretation of these studies and will help avoid the use of more invasive diagnostic tests. To the best of our knowledge, the majority of the pitfalls presented here have only been described in neonates.

First trimester biochemical screening for Down's syndrome in singleton pregnancies conceived by assisted reproduction.

BACKGROUND: Serum biochemical markers [free betahCG (fbetahCG); pregnancy-associated plasma protein-A (PAPP-A)] used in first trimester Down's syndrome screening have not been fully investigated in pregnancies achieved by assisted reproduction techniques. We present data on pregnancies conceived by all types of assisted reproduction techniques, including pregnancies following ovum donation (OD) and a large sample by ICSI. METHODS: First trimester Down's syndrome screening was performed in 1054 normal singleton pregnancies: natural conception (n = 498), ovulation induction (OS, n = 97), IVF (n = 47), ICSI (n = 222) and OD (n = 190). RESULTS: No differences in maternal levels of fbetahCG and PAPP-A, measured by the Kryptor system, appeared between naturally conceived pregnancies (n = 498) and those obtained with assisted reproduction techniques (n = 556). Several differences were apparent when comparing fbetahCG levels between different technologies but PAPP-A levels only differed between OS and IVF pregnancies (P < 0.05). In a further small study, no differences were observed using frozen embryos (n = 37), preimplantation genetic diagnosis (n = 53) or sperm from testicular biopsy (n = 21). CONCLUSIONS: Data accumulated so far suggest that first trimester biochemical markers either do not need any adjustments (e.g. in pregnancies obtained after OS and ICSI), or have very little impact (e.g. IVF pregnancies) or no impact (e.g. OD pregnancies) on the false positive rates.

Improved accuracy of hysteroembryoscopic biopsies for karyotyping early missed abortions.

OBJECTIVE: To assess the potential of direct embryo and chorion biopsies obtained by hysteroembryoscopy for karyotyping early missed abortions. DESIGN: Clinical prospective descriptive study. SETTING: Instituto Valenciano de Infertilidad, Valencia, Spain. PATIENT(S): Sixty-eight women (71 gestational sacs) with missed abortions. The gestational age on ultrasound was 6.3 weeks (range, 4-10 weeks). INTERVENTION(S): Transcervical hysteroembryoscopy before curettage. MAIN OUTCOME MEASURE(S): Comparison between the cytogenetic results from hysteroembryoscopic biospies and those of the curettage material. RESULT(S): Hysteroembryoscopic biopsies could be taken in 97.2% of the gestational sacs. Direct embryo and chorion biopsies were suitable for chromosomal analysis. Selective samples identified misdiagnoses of the conventional curettage karyotype due to maternal contaminating tissues in 22.2% of the cases. Direct hysteroembryoscopic biopsies also enabled the diagnosis of a true placental mosaicism and the study of the individual karyotype of each gestational sac in bizygotic twin missed abortions. CONCLUSION(S): In early missed abortions, karyotypes from direct hysteroembryoscopic biopsies were more accurate than those from the curettage material. The finding of a 46,XX karyotype in the curettage material is not a reliable result.