A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the Gene: A Case Report.

Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens, particularly during critical periods of early tissue development. Here, we reported a prenatal case with microcephaly, microphthalmia, and bilateral cataracts detected by ultrasonography and confirmed by autopsy.

Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

Demands for expanded carrier screening (ECS) are growing and ECS is becoming an important part of obstetrics practice and reproductive planning. The aim of this study is to evaluate the feasibility of a small-size ECS panel in clinical implementation and investigate Chinese couples' attitudes towards ECS. An ECS panel containing 11 recessive conditions was offered to Chinese pregnant women below 16 gestational weeks.

The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.

Objective: To report genome-wide cell-free DNA (cfDNA) screening facilitating the diagnosis of Pallister-Killian syndrome (PKS).

Methods: This is a retrospective cohort analysis of positive genome-wide cfDNA screening results showing increased signal from chromosome 12 and the detection of PKS. The genome-wide cfDNA screening results and the subsequent investigations were reviewed.

Cervical pessary placement for prevention of preterm birth in unselected twin pregnancies: a randomized controlled trial.

Background: Preterm birth is the leading cause of neonatal death and handicap in survivors. Although twins are found in 1.5% of pregnancies they account for about 25% of preterm births.

Pseudoamniotic Band Syndrome after In Utero Intervention for Twin-to-Twin Transfusion Syndrome: Case Reports and Literature Review.

Pseudoamniotic band syndrome (PABS) is a rare iatrogenic complication that arises after invasive procedures in monochorionic twins. We report 3 cases of PABS, 2 after fetoscopic laser photocoagulation and 1 after bipolar cord coagulation. Two cases were detected antenatally by ultrasound; out of the two, one underwent successful fetoscopic release of amniotic band, which is the first report in twin pregnancy to our knowledge.

Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies.

Objective: The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.

Method: A double-blind study was performed over 12 months. A total of 189 pregnant women carrying twins were recruited from seven hospitals.

[Perinatal outcome of monochorionic twin pregnancies].

Objective: To study the perinatal outcome of monochorionic (MC) twin pregnancies.

Methods: The 197 cases of MC twin pregnancies delivered in obstetric unit of Prince of Wales Hospital from Jan. 2005 to Dec.

A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing.

Objective: To report the feasibility of fetal chromosomal deletion/duplication detection using a novel bioinformatic method of low coverage whole genome sequencing of maternal plasma.

Method: A practical method Fetal Copy-number Analysis through Maternal Plasma Sequencing (FCAPS), integrated with GC-bias correction, binary segmentation algorithm and dynamic threshold strategy, was developed to detect fetal chromosomal deletions/duplications of >10 Mb by low coverage whole genome sequencing (about 0.08-fold).

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service.

Objective: To report secondary or additional findings arising from introduction of non-invasive prenatal testing (NIPT) for aneuploidy by whole genome sequencing as a clinical service.

Methods: Five cases with secondary findings were reviewed.

Results: In Case 1, NIPT revealed a large duplication in chromosome 18p, which was supported by arrayCGH of amniocyte DNA, with final karyotype showing mosaic tetrasomy 18p.

Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue.

Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. We reported here a case who had first trimester screening test for Down syndrome, chorionic villus sampling for fetal karyotyping, quantitative fluorescence polymerase chain reaction (QF-PCR), as well as non-invasive prenatal testing (NIPT) by maternal plasma sequencing. There were discordant results between fetal karyotyping and NIPT due to UPD 21combined with confined placental mosaicism of trisomy 21.

Detection of the fetal conotruncal anomalies using real-time three-dimensional echocardiography with live xPlane imaging of the fetal ductal arch view.

Objective: To evaluate the role of live xPlane imaging of ductal arch view in detection of fetal conotruncal anomalies.

Methods: Two hundred selected singleton pregnancies, including 152 normal cases, 27 conotruncal anomalies and 21 other types of fetal heart abnormalities were enrolled in this observational study. All the cases were scanned to visualize the ductal arch view with live xPlane imaging by a single observer.

Environmental factors in the first trimester and risk of oral-facial clefts in the offspring.

The averaged incidences of nonsyndromal/isolated cleft lip (CL), cleft palate (CP), and cleft lip with cleft palate (CLCP) by each month-of-conception, and managed in our hospital in from 2002 to 2009 were correlated with the reported levels of sunshine, ultraviolet radiation, and ambient nitrogen oxides (nitrogen oxide, nitrogen monoxide, and nitrogen dioxide), sulfur dioxide, and ozone, at the month of, and then at 4 and 8 weeks after, conception. There were 25, 12, and 22 cases each of CL, CP, and CLCP, respectively, totaling 59 cases (1.21 of 1000 births).

[Fetoscopic guided laser occlusion for twin-to-twin transfusion syndrome in 33 cases].

Objective: To evaluate the clinical effect of fetoscopic laser occlusion of chorioangiopagous vessels (FLOC) for monochorionic diamniotic twins (MCDA) pregnancies complicated with twin-to-twin transfusion syndrome(TTTS).

Methods: The clinical data of 33 consecutive cases of TTTS from Mainland China, who had FLOC in the Department of Obstetrics and Gynaecology of Prince of Wales Hospital (The Chinese University of Hong Kong) from November 2003 to December 2010, were reviewed and analyzed for peri-operative complications, perinatal outcomes and fetal survival rate. Clinical stage of TTTS was according to the Quintero staging system.

[Distribution and normal reference range of fetal nuchal translucency thickness in Kunming pregnant women in the first trimester].

Objective: To establish the normal reference range of fetal nuchal translucency (NT) thickness in Kunming Chinese pregnant women in the first trimester.

Methods: The study samples comprised of 1790 Kunming pregnant women who attended antenatal visit in the first trimester in the First Affiliated Hospital of Kunming Medical University. The general information including maternal date of birth, past pregnant history and other related conditions were recorded.

Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors.

Objective: To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China.

Method: The MPS-based test was offered as a prenatal screening test for trisomies 21 and 18 to pregnant women in 49 medical centers over 2 years. A total of 11,263 participants were recruited and the MPS-based test was performed in 11,105 pregnancies.

[Combined spectral karyotyping and microarray-based comparative genomic hybridization for the diagnosis of a case with ring chromosome 15].

Objective: To assess the value of spectral karyotyping (SKY) combined with microarray-based comparative genomic hybridization (array-CGH) for the diagnosis of complex ring chromosome aberration.

Methods: For an 8-year-old boy featuring growth retardation, G-banding analysis has indicated a 46,XY,r(15)? karyotype, which was delineated by SKY in combination with array-CGH.

Results: The ring chromosome has originated from chromosome 15 according to SKY analysis.

Can live xPlane imaging of the in-plane view of interventricular septum be used to detect fetal conotruncal anomalies?

Objective: To evaluate the feasibility of live xPlane imaging visualizing the in-plane view of IVS in the screening of the fetal conotruncal anomalies.

Method: One hundred and fifty-two consecutive normal singleton fetuses and forty-eight fetal cardiac defects (27 conotruncal and 21 non-conotruncal cases), were enrolled in this study. The in-plane view of IVS was firstly acquired with live xPlane imaging and then judged whether it is normal or not by one operator.

Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies.

Non-invasive prenatal screening for fetal Down syndrome (NIFTY) by maternal plasma sequencing was performed in 12 subjects with twin pregnancies, including 11 with normal fetuses and 1 with discordant fetal Trisomy 21. For every sample, it was processed, sequenced and reported as soon as it was collected as other clinical samples for singleton pregnancies. The NIFTY test was negative in the 11 pregnancies carried normal fetuses, and was positive (high risk) in the case with discordant fetal Trisomy 21.

Cerclage pessary for preventing preterm birth in women with a singleton pregnancy and a short cervix at 20 to 24 weeks: a randomized controlled trial.

Objective: To determine the effectiveness of cerclage pessary in the prevention of preterm birth in asymptomatic Chinese women with a short cervix at 20 to 24 weeks.

Methods: Low-risk women carrying singleton pregnancies were screened with transvaginal ultrasound, and those with a cervical length <25 mm at 20 to 24 weeks were recruited into a randomized controlled trial, comparing the prophylactic use of cerclage pessary with expectant management. The analysis was by intent-to-treat.

Arabin cerclage pessary in the management of cervical insufficiency.

Objective: To evaluate the use of Arabin cerclage pessary in the management of cervical insufficiency.

Methods: The pregnancy outcome of 20 women carrying singleton pregnancy referred for suspected cervical insufficiency and chose Arabin cerclage pessary for treatment from 2009-2011 were reviewed. Pregnancy outcome were analysed according to presence of risk factors, amniotic fluid sludge, cervical length and gestation at pessary insertion.

Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women.

Objective: To study whether pregnant women would like to be informed if sex chromosomal abnormalities (SCA) were suspected with the non-invasive prenatal diagnosis of fetal Down syndrome (the NIFTY) test.

Methods: Two hundred and one patients carried a singleton pregnancy requesting the NIFTY test were invited to give their preferences if there was suspicion of SCA by the NIFTY test.

Results: Over 93.

Breastfeeding initiation: is this influenced by maternal hepatitis B infection?

Objective: To elucidate the effect of hepatitis B virus (HBV) infection on breastfeeding uptake in Chinese mothers in an endemic region.

Patients And Methods: A retrospective cohort study on 63 885 consecutive pregnant delivered between January 1997 and June 2008, were extracted from computerized database to examine the relationship between breastfeeding uptake and maternal HBV status, adjusted for demographic factors.

Results: A total of 6593 (10.

Comparison of real-time three-dimensional echocardiography and spatiotemporal image correlation in assessment of fetal interventricular septum.

Objective: To compare the role of real-time 3DE and STIC technology in assessment of the fetal IVS.

Methods: Fifty pregnant women with singleton pregnancies were invited to attend this study. All the fetuses were examined by both spatiotemporal image correlation and real-time three-dimensional echocardiography.