Prenatal genetic findings using karyotyping and chromosomal microarray analysis in the first-occurrence typical orofacial clefts.

Background: Orofacial clefts (OFCs), including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), are among the most common congenital anomalies. Prenatal genetic evaluation plays a critical role in guiding pregnancy management. This study aimed to evaluate genetic findings and pregnancy outcomes in first-occurrence fetal OFCs using conventional karyotyping and SNP array analysis.

Hematological analysis of alpha-thalassemia: A single-center, retrospective clinical study.

Objectives: To determine the optimal cutoffs of the three indicators (MCV, MCH and HbA2) for alpha-thalassemia screening and to evaluate the validity of these indicators in Fujian Province, China.

Methods: We conducted a retrospective analysis on the results of specimens received from May 2016 to April 2023. Receiver operating characteristic (ROC) curves were used to confirm the optimal cutoffs of the screening indicators.

Comparative performance and health economic analysis of prenatal screening for down syndrome in Fujian province, China.

To compare the performance of first-trimester serum screening (FTSS) and non-invasive prenatal testing (NIPT) in detecting fetal chromosomal aneuploidies trisomy 21 (T21) and trisomy 18 (T18), and to evaluate the cost-effectiveness and clinical feasibility of four screening strategies for the prevention of Down syndrome (DS) from a health economics perspective. This retrospective study included 33,559 pregnant women who underwent DS screening at Fujian Maternity and Child Health Hospital between February 25, 2022, and December 29, 2023. Participants were divided into an FTSS group (n = 23,136) and an NIPT group (n = 10,423) based on the type of screening received.

Single Nucleotide Polymorphism array analysis for fetuses from balanced translocation carriers at the second trimester.

Prenatal diagnosis is crucial for pregnancies from couples with a carrier of a balanced translocation. We retrospectively reviewed 195 pregnancies from 189 couples with a balanced translocation carrier. Of these, 126 were from natural conception, while 69 were conceived through assisted reproductive technology (ART) with preimplantation genetic diagnosis (PGD).

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.

Background: With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication. The study aimed to explore the molecular etiology of fetal TE and provide more information for the clinical screening and genetic counseling of TE by Chromosomal Microarray Analysis (CMA).

Methods: This retrospectively study included 131 fetuses with TE identified by ultrasonography.

Fetal mosaicism, should conventional karyotype always be performed?

Background And Purpose: The application of classical cytogenetic and DNA-based molecular techniques to detect cell lineages of mosaicism derived from cultured or noncultured fetal cells may result in discordant results. This retrospective study aimed to assess the inconsistent diagnostic outcomes, technical availability, and limitations of chromosomal microarray analysis (CMA) and karyotyping for mosaicism.

Methodology: A total of 75 fetuses diagnosed with mosaicism by karyotype analysis or CMA were selected, and the results from both the methods were compared and further analyzed.

Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone.

Purpose: This study aims to evaluate the prevalence of submicroscopic chromosomal abnormalities found on single nucleotide polymorphism array (SNP array) in pregnancies with either an absent or hypoplastic nasal bone.

Methods: This retrospective study included 333 fetuses with either nasal bone hypoplasia or absence identified on prenatal ultrasound. SNP array analysis and conventional karyotyping were performed in all the subjects.

Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China.

Numerous studies have evaluated the use of single nucleotide polymorphism array (SNP-array) in prenatal diagnostics, but very few have evaluated its application under different risk conditions. Here, SNP-array was used for the retrospective analysis of 8386 pregnancies and the cases were categorized into seven groups. Pathogenic copy number variations (pCNVs) were found in 699 (8.

Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center.

Objectives: The aim of this study was to explore the frequency and profile of non-mosaic sex chromosome abnormalities detected in prenatal diagnosis over the past 10 years.

Methods: We retrospectively reviewed pregnancies diagnosed with non-mosaic sex chromosome abnormalities between January 2012 and December 2021, using karyotyping and/or single nucleotide polymorphism (SNP) array. Maternal age, indications for testing, and outcomes were recorded.

[Ultrasonographic phenotype and genetic analysis of fetuses with 17q12 microdeletion].

Objective: To analyze the ultrasonographic phenotype and result of genetic testing in six fetuses carrying a 17q12 microdeletion.

Methods: Chromosomal microarray analysis (CMA) was carried out for 6200 pregnant women undergoing prenatal diagnosis from December 2016 to May 2021.

Results: CMA has identified 6 fetuses with a microdeletion in the 17q12 region, which spanned approximately 1.

Corrigendum: Chromosomal abnormalities and pregnancy outcomes for fetuses with gastrointestinal tract obstructions.

[This corrects the article DOI: 10.3389/fped.2022.

Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions.

Fetal gastrointestinal tract obstruction (GITO) is the most frequently encountered gastrointestinal defect in the prenatal period. This study aimed to investigate the genetic disorders and pregnancy outcomes of fetal GITO. We reviewed data from 70 pregnancies that were referred for invasive prenatal testing because of fetal GITO.

Erythrocyte Indices and Hemoglobin Analysis for α-Thalassemia Screening in an Area with High Carrying Rate.

Carriers of α-thalassemia exhibit hypochromic microcytosis with mean corpuscular volume (MCV) < 80 fL, mean corpuscular hemoglobin (MCH) < 27 pg, and reduced hemoglobin A (HbA). We studied the distribution and diagnostic efficiencies of these indicators and their combinations in patients with and without alpha-thalassemia. Based on genetic diagnosis, 10,883 participants were divided into alpha-thalassemia group (n = 1655) and negative-for-alpha-thalassemia group (n = 9228).

Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center.

Background: The etiology of fetal growth restriction (FGR) is complex and currently, there is a paucity of research about the genetic etiology of fetal growth restriction. We investigated the genetic associations and pregnancy outcomes in cases of fetal growth restriction.

Methods: A retrospective analysis of 210 pregnant women with fetal growth restriction was performed using karyotype analysis and single nucleotide polymorphism arrays (SNP-array).

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios.

Background: Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pregnancies with polyhydramnios are limited. The aim of this study is to evaluate the implications of pregnancy with polyhydramnios by CMA testing and routine karyotyping.

[Prenatal ultrasonographic manifestations and genetic analysis of eight fetuses with 16p11.2 microdeletions].

Objective: To analyze the intrauterine phenotype and genotype of eight fetuses carrying a 16p11.2 microdeletion.

Methods: 5100 fetuses undergoing routine prenatal diagnosis were subjected to single nucleotide polymorphism-based microarray (SNP-array) analysis.

Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center.

Background: Pregnancy loss is one of the most common complications during pregnancy. Clinical consultation based on etiology analysis are critical for reducing anxiety and distress. This study aimed to perform a comprehensive analysis for products of conception (POC) in miscarriage based on genetic etiology and clinical information.

Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities.

Introduction: Increased nuchal translucency (NT) is closely related to an increased risk of chromosomal abnormalities. However, the criterion of increased NT for invasive prenatal diagnosis remains controversial, as the cutoff values are inconsistent among countries. This study was conducted to compare the various cutoff values of increased NT and calculate the incidence of chromosomal abnormalities to determine the predictive ability of these cutoff values in conventional chromosome analysis.

Screening of Some Indicators for Alpha-Thalassemia in Fujian Province of Southern China.

Background: Carrier screening is the most effective means of controlling the prevalence of alpha-thalassemia. However, due to the differences in ethnic populations and genotypes, the distribution of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin A (HbA) varies in different regions. This study aimed to examine screening efficiency of these indicators in different genotypes of alpha-thalassemia in Fujian Province, China.

[Prenatal ultrasonic characteristics and genetic analysis of fetuses with chromosome 22q11 microdeletion syndrome].

Objective: To analyze the prenatal ultrasonic characteristics and genetic features of 14 fetuses with chromosome 22q11 microdeletion syndrome (22q11DS).

Methods: 4989 fetuses were analyzed by using single nucleotide polymorphism array (SNP array) in the Fujian Maternal and Child Health Hospital from November 2016 to November 2019.

Results: SNP array showed that 11 fetuses had classic 3 Mb microdeletion in 22q11 region, one fetus had 2.

Prenatal diagnosis of Pallister-Killian syndrome and literature review.

Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected.

Application of Single Nucleotide Polymorphism Microarray in Prenatal Diagnosis of Fetuses with Central Nervous System Abnormalities.

Background: The current gold standard of karyotype analysis for prenatal diagnosis of fetuses with central nervous system (CNS) abnormalities has some limitations. Here, we assessed the value of single nucleotide polymorphism (SNP) arrays as a diagnostic tool.

Methods: The results of prenatal diagnosis of 344 fetuses with CNS abnormalities as determined by ultrasonographic screening were retrospectively analyzed.

Choroid Plexus Cysts: Single Nucleotide Polymorphism Array Analysis of Associated Genetic Anomalies and Resulting Obstetrical Outcomes.

Objective: Choroid plexus cysts (CPC) are pseudocysts in the fetal choroid plexus and can be detected during ultrasound examination. However, the etiology of fetuses with CPC is still unknown. This study aimed to evaluate the genetic anomalies of fetuses with CPC using single nucleotide polymorphism (SNP) array analysis, as well as their obstetrical outcomes.

Chromosomal microarray analysis for pregnancies with abnormal maternal serum screening who undergo invasive prenatal testing.

Recently, chromosomal microarray analysis (CMA) has been implemented as a first-tier test in pregnancies with ultrasound anomalies. However, its application for pregnancies with abnormal maternal serum screening (AMSS) only is not widespread. This study evaluated the value of CMA compared to traditional karyotyping in pregnancies with increased risk following first- or second-trimester maternal serum screening.