Increased nuchal translucency with normal karyotype and genomic microarray analysis: A multicenter observational study. 2023

Elisa Spataro, and Adalgisa Cordisco, and Carlo Luchi, and Gilda Rosaria Filardi, and Giulia Masini, and Lucia Pasquini
Fetal Medicine Unit, Department for Women and Children Health, Azienda Ospedaliero Universitaria Careggi, Florence, Italy.

OBJECTIVE To define the residual risk of morbidity-related outcome in fetuses with nuchal translucency (NT) of 3.5 mm or more after normal genetic testing and mid-trimester anomaly scan. METHODS A total of 114 fetuses with isolated NT of 3.5 mm or more, normal karyotype, and array-based comparative genomic hybridization (array-CGH) were included and divided in three groups: NT 3.5-4.5 mm, NT 4.5-6 mm, and NT greater than 6 mm. RASopathy testing and ultrasound follow up were performed in all fetuses. We evaluated: (1) incidence of genetic disorders; (2) incidence of structural abnormalities; (3) pregnancy outcome; (4) long-term pediatric outcome before (point 1) and after (point 2) a normal RASopathy testing and mid-trimester anomaly scan. RESULTS After normal karyotype and array-CGH the residual risk of morbidity-related outcome was 24.64% for NT 3.5-4.5 mm, 25% for NT 4.5-6 mm and 76.47% for NT more than 6 mm. After a normal RASopathy testing and mid-trimester anomaly scan the residual risks decreased to 7.14%, 8.69%, and 33.3% in the three groups, respectively. CONCLUSIONS In fetuses with an NT of 3.5 mm or more and both normal karyotype and array-CGH, the rate of morbidity-related outcome depends on NT size. A normal RASopathy testing and mid-trimester ultrasound are reassuring but the residual risk of morbidity-related outcome is increased compared with the general population, particularly if NT is greater than 6 mm.

UI MeSH Term Description Entries
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011256 Pregnancy Outcome Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; or SPONTANEOUS ABORTION. The outcome may follow natural or artificial insemination or any of the various ASSISTED REPRODUCTIVE TECHNIQUES, such as EMBRYO TRANSFER or FERTILIZATION IN VITRO. Outcome, Pregnancy,Outcomes, Pregnancy,Pregnancy Outcomes
D011261 Pregnancy Trimester, First The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation. Early Placental Phase,Pregnancy, First Trimester,Trimester, First,Early Placental Phases,First Pregnancy Trimester,First Pregnancy Trimesters,First Trimester,First Trimester Pregnancies,First Trimester Pregnancy,First Trimesters,Phase, Early Placental,Phases, Early Placental,Placental Phase, Early,Placental Phases, Early,Pregnancies, First Trimester,Pregnancy Trimesters, First,Trimesters, First
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016216 Ultrasonography, Prenatal The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease. Fetal Ultrasonography,Prenatal Diagnosis, Ultrasonic,Ultrasonography, Fetal,Diagnosis, Prenatal Ultrasonic,Diagnosis, Ultrasonic Prenatal,Prenatal Ultrasonic Diagnosis,Prenatal Ultrasonography,Ultrasonic Diagnosis, Prenatal,Ultrasonic Prenatal Diagnosis,Diagnoses, Prenatal Ultrasonic,Diagnoses, Ultrasonic Prenatal,Prenatal Diagnoses, Ultrasonic,Prenatal Ultrasonic Diagnoses,Ultrasonic Diagnoses, Prenatal,Ultrasonic Prenatal Diagnoses
D048208 Nuchal Translucency Measurement A prenatal ultrasonography measurement of the soft tissue behind the fetal neck. Either the translucent area below the skin in the back of the fetal neck (nuchal translucency) or the distance between occipital bone to the outer skin line (nuchal fold) is measured. Nuchal Fold,Nuchal Fold Measurement,Nuchal Fold Screening,Nuchal Translucency,Nuchal Translucency Screening,Fold Measurement, Nuchal,Fold Measurements, Nuchal,Fold Screening, Nuchal,Fold Screenings, Nuchal,Measurement, Nuchal Fold,Measurement, Nuchal Translucency,Measurements, Nuchal Fold,Nuchal Fold Measurements,Nuchal Fold Screenings,Nuchal Translucency Measurements,Nuchal Translucency Screenings,Screening, Nuchal Fold,Screenings, Nuchal Fold,Translucency, Nuchal
D055028 Comparative Genomic Hybridization A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations. Array Comparative Genomic Hybridization,Array-Based Comparative Genomic Hybridization,Comparative Genome Hybridization,Array Based Comparative Genomic Hybridization,Comparative Genome Hybridizations,Comparative Genomic Hybridizations,Genome Hybridization, Comparative,Genome Hybridizations, Comparative,Genomic Hybridization, Comparative,Genomic Hybridizations, Comparative,Hybridization, Comparative Genome,Hybridization, Comparative Genomic,Hybridizations, Comparative Genome,Hybridizations, Comparative Genomic
D059785 Karyotype The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed) Karyotypes

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