Risk factors for neonatal brachial plexus palsy: a systematic review and meta-analysis.

Aim: To provide a comprehensive update on the most prevalent, significant risk factors for neonatal brachial plexus palsy (NBPP).

Method: Cochrane CENTRAL, MEDLINE, Web of Science, Embase, and ClinicalTrials.gov were searched for relevant publications up to March 2019.

Noninvasive prenatal detection of hemoglobin Bart hydrops fetalis via maternal plasma dispensed with parental haplotyping using the semiconductor sequencing platform.

Background: Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA.

Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma.

The current study describes a successful case of preimplantation genetic diagnosis (PGD) of primary open angle glaucoma (POAG) and verifies the efficiency of next-generation sequencing (NGS)-based haplotyping for PGD of POAG. In this study, we applied NGS as part of PGD to effectively detect POAG prior to embryo implantation and avoid the prospect of pregnancy termination in event of vertical inheritance of POAG. We used the technique of multiple annealing and looping based amplification cycles (MALBAC) to conduct whole genome amplification (WGA) and to reduce the allele dropout (ADO).

The significance of trisomy 7 mosaicism in noninvasive prenatal screening.

Background: This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis.

Method: A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between April 2015 and November 2017 due to suspicious NIPT results; these cases represented 0.11% of patients (35/31,250) with similar frequencies of abnormal results among the laboratories performing the tests.

Herlyn-Werner-Wunderlich Syndrome: Report of a Prenatally Recognised Case and Review of the Literature.

Herlyn-Werner-Wunderlich syndrome, defined by the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis, is a rare Mullerian malformation, usually diagnosed after menarche, when symptoms related to hematocolpos arise. Rarely, this malformation is diagnosed in the neonatal period, normally following prenatal diagnosis of renal agenesis. Herein, a case recognized on prenatal imagiology that underwent surgery on the fourth day of life is reported.

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

Nucleoporins build the nuclear pore complex (NPC), which, as sole gate for nuclear-cytoplasmic exchange, is of outmost importance for normal cell function. Defects in the process of nucleocytoplasmic transport or in its machinery have been frequently described in human diseases, such as cancer and neurodegenerative disorders, but only in a few cases of developmental disorders. Here we report biallelic mutations in the nucleoporin NUP88 as a novel cause of lethal fetal akinesia deformation sequence (FADS) in two families.

Decreased apparent diffusion coefficient in the placentas of monochorionic twins with selective intrauterine growth restriction.

Objectives: The apparent diffusion coefficient (ADC) was associated with the onset of intrauterine growth restriction in singleton pregnancies. However, the correlation of ADC with selective intrauterine growth restriction (sIUGR) of monochorionic (MC) twin pregnancies remained unknown. In this study, we aimed to evaluate the association of ADC with sIUGR in MC twin pregnancies by exploring diffusion weighted MR imaging (DWI).

A case of placental trisomy 18 mosaicism causing a false negative NIPT result.

Background: The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a result of its increased sensitivity and specificity. However, false positive and false negative results still exist.

Case Presentation: We presented a case in which the non-invasive prenatal testing results were normal at 15 gestational age (GA), but an ultrasound examination at 30GA showed that the fetus had heart abnormalities, and the third trimester ultrasound at 33GA noted multiple anomalies including a 3.

Efficiency of prenatal diagnosis in Pierre Robin sequence.

Objectives: To analyze the efficiency of prenatal diagnosis of Pierre Robin sequence (PRS) regarding the final specific diagnosis and to determine whether infants have more severe respiratory disorders with than without prenatally suspected PRS.

Methods: Review of the outcome of all prenatal cases of suspected PRS managed in our prenatal diagnosis center during the last 15 years; analysis of the consistency between prenatal and postnatal diagnoses in 2 groups of women with and without a family history of PRS; comparison of the grades of disease severity for infants with and without prenatally suspected PRS.

Results: Fifty-nine files were studied.

Consensus Document of the Italian Association of Hospital Cardiologists (ANMCO), Italian Society of Pediatric Cardiology (SICP), and Italian Society of Gynaecologists and Obstetrics (SIGO): pregnancy and congenital heart diseases.

The success of cardiac surgery over the past 50 years has increased numbers and median age of survivors with congenital heart disease (CHD). Adults now represent two-thirds of patients with CHD; in the USA alone the number is estimated to exceed 1 million. In this population, many affected women reach reproductive age and wish to have children.

Outcome after prenatal and postnatal diagnosis of complex congenital heart defects and the influence of genetic anomalies.

Objective: Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD.

Method: Single center retrospective study in patients with severe CHD diagnosed prenatally or postnatally (2006 to 2014).

Results: A total of 567 patients were included, 176 (31%) after prenatal diagnosis, with large differences in prenatal detection rate among CHD types.

A novel Y chromosome microdeletion potentially associated with defective spermatogenesis identified by custom array comparative genome hybridization.

Male infertility is a major health problem worldwide. Oligospermia and azoospermia are the most common symptoms of this disorder. Despite recent advances, the aetiopathogenesis of defective spermatogenesis remains largely uncertain.

Hearing-loss-associated gene detection in neonatal intensive care unit.

Objective: To investigate the frequency and mutation spectrum of hearing loss-associated gene mutation in Neonatal Intensive Care Unit (NICU).

Methods: Neonates (n=2305) admitted to NICU were enrolled in this study. Nine prominent hearing loss-associated genes, GJB2 (35 del G, 176 del 16,235 del C, 299 del AT), GJB3 (538 C > T), SLC26A4 (IVS7-2A > G, 2168 A > G) and mtDNA 12S rRNA(1555 A > G, 1494 C > T), were detected.

Endometrial carcinoma-related genetic factors: application to research and clinical practice in China.

Unlabelled: Genetic factors affect the initiation and progression of endometrial carcinoma (EC). The routine detection of genetic factors involved in EC has not been extensively performed in Chinese clinical practice, however. In this review we summarise EC-related genetic factors, including Lynch syndrome-associated mutations and non-Lynch syndrome-associated genetic predispositions found in Chinese women, and their potential clinical applications.

Herman score in prenatal screening for Down syndrome: Can a junior assess a senior?

Purpose: To compare Herman scores self-assessed prospectively during ultrasound first-trimester screening by a single senior radiologist with 15 years of experience, to those obtained retrospectively by an unexperienced junior radiologist.

Materials And Methods: Over a 18-month period, a single senior radiologist measured the nuchal translucency thickness along with calculation of Herman scores. An independent junior radiologist subsequently reviewed and scored the images.

A novel supine isocentric approach for craniospinal irradiation and its clinical outcome.

Objective: To report a novel approach for craniospinal irradiation (CSI) using a supine isocentric technique.

Methods: Patients were treated in the supine position using CT simulation. Half-beam-blocked lateral cranial fields and superior spinal fields have the same isocentre, and their beam divergences match.

Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA.

Noninvasive prenatal testing (NIPT) using sequencing of fetal cell-free DNA from maternal plasma has enabled accurate prenatal diagnosis of aneuploidy and become increasingly accepted in clinical practice. We investigated whether NIPT using semiconductor sequencing platform (SSP) could reliably detect subchromosomal deletions/duplications in women carrying high-risk fetuses. We first showed that increasing concentration of abnormal DNA and sequencing depth improved detection.

rs2043211 polymorphism in CARD8 is not associated with Tourette syndrome in a family-based association study in the Chinese Han population.

Background: Previous studies showed that postinfectious autoimmunity and immune deficiency played an important role in the pathogenesis of Tourette syndrome. CARD8 can suppress activity of NF-ΚB activated by inflammatory mediators.

Objective: To study the association between the rs2043211 polymorphism in CARD8 and susceptibility to Tourette syndrome in Chinese Han population.

Maternal serum disintegrin and metalloprotease protein-12 in early pregnancy as a potential marker of adverse pregnancy outcomes.

Objectives: The aim of this study was to determine whether the concentration of disintegrin and metalloprotease protein12 (ADAM12) in first trimester maternal serum can be used as a marker for first-trimester complete spontaneous abortions, missed abortions, ectopic pregnancies and hydatidiform moles.

Methods: The maternal serum concentrations of ADAM12 were measured in the range of 5-9+6 weeks of gestation using an automated AutoDelfia immunoassay platform in 9 cases of complete spontaneous abortion, 27 cases of missed abortions, 56 cases of ectopic pregnancies, 12 cases of hydatidiform moles, and 100 controls. Logistic regression analysis was used to determine significant factors for predicting adverse pregnancy outcomes in early pregnancy.

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.

Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconductor sequencing platform (SSP), which relies on the MPS platform but offers advantages over existing noninvasive screening techniques.

A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics.

Background: Array-based comparative genomic hybridization possesses a number of significant advantages over conventional cytogenetic and other molecular cytogenetic techniques, providing a sensitive and comprehensive detection platform for unexpected imbalances in the genome wide.

Case Presentation: The newborn proband, demonstrated with craniofacial dysmorphism and multiple malformations, was born to a family with spontaneous abortions. This pregnancy was uneventful, except the prenatal ultrasound examination showed an increased nuchal translucency at 12(+) weeks of gestation.

The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.

Objective: To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.

Methods: A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters.

Results: A high prevalence of α- and β-globin gene mutations was found.

The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.

Background: Given that hearing loss occurs in 1 to 3 of 1,000 live births and approximately 90 to 95 percent of them are born into hearing families, it is of importance and necessity to get better understanding about the carrier rate and mutation spectrum of genes associated with hearing impairment in the general population.

Methods: 7,263 unrelated women of childbearing age with normal hearing and without family history of hearing loss were tested with allele-specific PCR-based universal array. Further genetic testing were provided to the spouses of the screened carriers.