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

AbstractChromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications.

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Maternal serum screening - as a prenatal testing choice

Scripta Scientifica Medica ◽

10.14748/ssm.v39i1.508 ◽

2007 ◽

Vol 39 (1) ◽

pp. 41

Author(s):

Lyudmila Angelova ◽

Dimitrina Konstantinova ◽

V. Gadancheva ◽

Bоyan Balev

Keyword(s):

Prenatal Testing ◽

Maternal Serum ◽

Maternal Serum Screening ◽

Serum Screening

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Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

Medical Sciences ◽

10.3390/medsci7030040 ◽

2019 ◽

Vol 7 (3) ◽

pp. 40 ◽

Cited By ~ 1

Author(s):

Rita Cicatiello ◽

Piero Pignataro ◽

Antonella Izzo ◽

Nunzia Mollo ◽

Lucia Pezone ◽

...

Keyword(s):

Microarray Analysis ◽

Chromosomal Rearrangements ◽

Prenatal Testing ◽

Normal Karyotype ◽

Nuchal Translucency ◽

Cystic Hygroma ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Chromosomal Anomalies ◽

Increased Nuchal Translucency

We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of karyotype, chromosome microarray analysis (CMA), and non-invasive prenatal testing (NIPT) in this condition. Presenting with increased NT or cystic hygroma ≥3.5 mm as an isolated sign, 249 fetuses underwent karyotype and/or CMA from 11 to 18 gestational weeks. Karyotype and fluorescence in situ hybridization (FISH) analyses detected 103 chromosomal anomalies including 95 aneuploidies and eight chromosomal rearrangements or derivatives. Further, seven pathogenic copy number variants (CNV), five likely pathogenic CNVs, and 15 variants of unknown significance (VOUS) were detected by CMA in fetuses with normal karyotype. Genetic testing is now facing new challenges due to results with uncertain clinical impacts. Additional investigations will be necessary to interpret these findings. More than 15% of the anomalies that we have diagnosed with invasive techniques could not be detected by NIPT. It is therefore definitely not recommended in the case of ultrasound anomalies. These results, while corroborating the use of CMA in fetuses with increased NT as a second tier after rapid aneuploidy testing, do not suggest a dismissal of karyotype analysis.

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Clinical experience of Umbilical Cord cysts from a Chinese single centre

10.21203/rs.3.rs-36468/v1 ◽

2020 ◽

Author(s):

Wu Zaigui ◽

Dong Minyue

Keyword(s):

Vaginal Delivery ◽

Umbilical Cord ◽

Karyotype Analysis ◽

Left Kidney ◽

Prenatal Testing ◽

Electronic Record ◽

Maternal Serum ◽

Structural Defects ◽

Maternal Serum Screening ◽

Serum Screening

Abstract BackgroundThe aim of this series was to guide the prenatal management of umbilical cord cysts by summarizing their clinical datas.MethodsA retrospected study from Jan 2012 to May 2019 was conducted in our centre from Women’s Hospital, School of Medicine, Zhejiang University. Clinical datas and pregnancy outcomes of women with umbilical cord cysts were reviewed from the hospital’s electronic record and descriptive information about the umbilical cord cysts were depicted from both the sonograms and macrography.ResultsTwenty-eight women were diagnosed with umbilical cord cysts during the last six years,of whom only three had therapeutic abortion for fetal malformations and twenty-three were diagnosed between 12 + and 38 + gestational week(GW). Eight had only maternal serum screening, six had non-invasive prenatal testing (NIPT) directly and six had both tests. Three had karyotype analysis while five cases had no record.With maternal serum screening,one had high risk and the other one had middle risk and they both further had NIPT low risk.Still another one had a HCG multiple of median (MoM) up to 2.9 whose fetal had left kidney cyst.Except umbilical cord cysts, six fetus had other sructural defects including multiple malformation,single umbilical artery,acromphalus and kidney absence or cyst.There were still two cases had fetal arrhythmia and atrial premature beats.The mean delivery week was 39 + GW, six women had successful vaginal delivery and the remaing had cesarean section. The mean birth weight was 3120 g and the majority had a good pregnancy outcome.ConclusionsUmbilical cord cysts were rare but might warn fetal structural defects or chromosomal abnormality. Systematic ultrasound assessment and karyotype analysis or NIPT at least should be suggested in their prenatal counseling. More attention should be paid to fetal distress during pregnancy and vaginal delivery could be a choose unless they had other contraindication.

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