An overview of current prenatal genetic screening and diagnosis guidelines DOI Creative Commons

Carmen Santoli,

Sarah K. Dotters‐Katz, Teresa N. Sparks

и другие.

Опубликована: Апрель 10, 2025

Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked staying current the latest recommendations for genetic screening diagnosis order provide patient‐centered evidence‐based care. We present a review 15 societal guidelines that have been published or reaffirmed between 2016 2023 from American College Obstetricians Gynecologists (ACOG), Society Maternal Fetal Medicine (SMFM), Medical Genetics Genomics (ACMG), International Prenatal Diagnosis (ISPD). summary guidance carrier screening, cell‐free DNA (cfDNA) diagnostic testing, also discuss key principles. In brief, there several approaches range few select conditions (hemoglobinopathies, spinal muscular atrophy, cystic fibrosis) hundreds through expanded panels. Both ACOG ACMG support (ideally preconception) although differing about optimal approach number screen. With regards cfDNA ACOG, SMFM, ACMG, ISPD recommend offering all patients option screen common aneuploidies, consideration sex chromosome aneuploidies after counseling. While do not endorse microdeletion cfDNA, supports 22q11.2 deletion syndrome. societies unanimous recommending against evaluation rare autosomal trisomies. Finally, terms chromosomal microarray fetal structural anomalies, stillbirth, confirmation results. Next‐generation sequencing exome genome is recommended by ISPD, SMFM anomalies following normal karyotype and/or microarray. on other hand, does currently outside research setting. must robust literacy understand testing methodologies, benefits limitations options, engage equitable clinical practice.

Язык: Английский

Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review DOI Creative Commons

Yuying Zhu,

Ke Wu,

Cuicui Jiang

и другие.

Frontiers in Genetics, Год журнала: 2025, Номер 16

Опубликована: Март 5, 2025

Uniparental disomy (UPD) occurs when both homologous chromosomes are inherited from a single parent. To date, the UPD of all autosomes and X chromosome has been recorded. A few cases 21 have documented. At 15 weeks gestation, 25-year-old pregnant woman’s non-invasive prenatal screening revealed high risk trisomy 21. Although no anomalies were detected in fetal ultrasonography, amniocentesis was performed, karyotype analysis found normal. single-nucleotide polymorphism (SNP) array that fetus had copy-neutral region homozygosity (ROH) long arm Subsequently, whole-exome sequencing performed due to recessive gene variants ROH, homozygous like pathogenic or on After genetic counseling, parents decided continue this pregnancy. 37 live male infant delivered by Cesarean section. Copy number variation showed placental tissue mosaic for final follow-up evaluation, 6-month-old boy normal phenotype.

Язык: Английский

Процитировано

0
An overview of current prenatal genetic screening and diagnosis guidelines DOI Creative Commons

Carmen Santoli,

Sarah K. Dotters‐Katz, Teresa N. Sparks

и другие.

Опубликована: Апрель 10, 2025

Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked staying current the latest recommendations for genetic screening diagnosis order provide patient‐centered evidence‐based care. We present a review 15 societal guidelines that have been published or reaffirmed between 2016 2023 from American College Obstetricians Gynecologists (ACOG), Society Maternal Fetal Medicine (SMFM), Medical Genetics Genomics (ACMG), International Prenatal Diagnosis (ISPD). summary guidance carrier screening, cell‐free DNA (cfDNA) diagnostic testing, also discuss key principles. In brief, there several approaches range few select conditions (hemoglobinopathies, spinal muscular atrophy, cystic fibrosis) hundreds through expanded panels. Both ACOG ACMG support (ideally preconception) although differing about optimal approach number screen. With regards cfDNA ACOG, SMFM, ACMG, ISPD recommend offering all patients option screen common aneuploidies, consideration sex chromosome aneuploidies after counseling. While do not endorse microdeletion cfDNA, supports 22q11.2 deletion syndrome. societies unanimous recommending against evaluation rare autosomal trisomies. Finally, terms chromosomal microarray fetal structural anomalies, stillbirth, confirmation results. Next‐generation sequencing exome genome is recommended by ISPD, SMFM anomalies following normal karyotype and/or microarray. on other hand, does currently outside research setting. must robust literacy understand testing methodologies, benefits limitations options, engage equitable clinical practice.

Язык: Английский

Процитировано

0