Malformations of cortical development: Fetal imaging and genetics.

Background: Malformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD.

Prenatal chromosomal microarray analysis and karyotyping in fetuses with isolated choroid plexus cyst: A retrospective case-control study.

Objectives: To evaluate the the diagnostic yield of chromosomal microarray analysis (CMA) in fetuses with isolated CPC (iCPC).

Methods: A total of 315 fetuses with iCPC (iCPC group) and 364 fetuses without abnormal ultrasound findings (control group) were recruited between July 2014 to March 2018.

Results: The overall diagnostic yield of chromosomal abnormalities by CMA and karyotyping in iCPC group was up to 4.

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and mutations.

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome that is characterized by postnatal growth deficiency, hypotonia, short stature, mild-to-moderate intellectual disability, skeletal abnormalities, persistence of fetal fingertip pads, and distinct facial appearance. It is mainly caused by pathogenic/likely pathogenic variants in the or genes. Here, we described the clinical features of nine sporadic KS patients with considerable phenotypic heterogeneity.

[Clinical analysis of monochorionic-diamniotic twins with genetic discordance].

Objective: To explore the genetic etiology of 5 cases of monochorionic-diamniotic (MCDA) with genetic discordance.

Methods: 148 cases of MCDA twins who were diagnosed by amniocentesis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2020 were selected as the study subjects. Relevant clinical data of the pregnant women were collected, and amniotic fluid samples of the twins were collected separately.

Novel and recurrent ASPM mutations of founder effect in Chinese population.

Purpose: Mutations in ASPM are the most common causes of primary microcephaly (MCPH), which is a rare brain developmental disorder with few studies in Chinese population so far. This study aimed to identify the common pathogenic variants of ASPM and estimated the incidence of MCPH5 in Guangxi population.

Methods: We ascertained six MCPH cases caused by ASPM mutations in Guangxi Zhuang Autonomous Region, Whole-exome sequencing (WES) was performed to uncover the causal variants.

Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion.

Objective: This study aimed to explore the correlation between the ultrasound phenotype and copy number variation (CNV) of abnormal embryos in spontaneous abortion by investigating the abnormal chromosome copy number of embryos at different developmental stages in early spontaneous abortion.

Methods: A total of 539 patients who had early spontaneous abortion in our hospital between 2015 and 2019 were divided into seven groups according to the phenotype of abnormal embryonic development during pregnancy, and the embryonic tissues of the patients were subjected by single nucleotide polymorphism (SNP) microarray.

Results: Among 377 cases with abnormal CNV, 295 (78.

Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China.

 This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China.  All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and analyzed.  Total 482 cases of NIHF were identified during the study period.

Monochorionic-Triamniotic Triplet Pregnancy Complicated by Twin Reversed Arterial Perfusion Sequence: Case Report and Literature Review.

 Monochorionic-triamniotic pregnancies are rare and fraught with complications.  A case of monochorionic-triamniotic triplet pregnancy complicated by twin reversed arterial perfusion (TRAP) sequence is presented. The patient declined termination or selective fetal reduction.