Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Fetal Ultrasound in the First Trimester | GA at AC | Ultrasound Findings in the Second Trimester | Chromosome Region | Size | Variant Type | Classification | Pregnancy Outcome | |
---|---|---|---|---|---|---|---|---|
1 | CIII PIII 37 y/o NT 1.4 mm; CRL 70 mm; NB (+) cFTS: low risk | 20 | isolated NB hypoplasia | Xp22.31 * | 1.67 Mb | deletion | pathogenic | LB, 39 weeks GA, normal newborn examination |
2 | CV PIII 35 y/o NT 2.1 mm; CRL 68 mm; NB (+) cFTS: low risk | 19 | isolated NB hypoplasia | 8p23.3p23.1 ** 8p23.1p12 *** | 6.68 Mb 22.26 Mb | deletion amplifiaction | potentially pathogenic potentially pathogenic | LB, 39 weeks GA, cerebellar hypoplasia, hypotonia, facial dysmorphia, strabismus |
Ultrasound Findings in the Second Trimester | Number of Cases | Chromosome Region |
---|---|---|
NB hypoplasia, CPC and pyelectasis | 1 | normal CMA |
NB hypoplasia, ICEF, hyperechogenic bowels | 1 | normal CMA |
NB hypoplasia and ICEF | 1 | normal CMA |
NB hypoplasia and CPC | 2 | normal CMA |
NB hypoplasia and NF | 2 | normal CMA |
NB hypoplasia and pyelectasis | 3 | normal CMA |
NB hypoplasia and pyelectasis | 1 | 18q22.1 * |
Fetal Ultrasound in the First Trimester | GA at AC | Ultrasound Findings in the Second Trimester | Chromosome Region | Size | Variant Type | Classification | Pregnancy Outcome | |
---|---|---|---|---|---|---|---|---|
1a * | CIII PI 37 y/o NT 3.7 mm; CRL 65 mm cFTS: high risk | 16 | NB hypoplasia, ventriculomegaly, CCA, NF, hypotelorism, RAA, hypospadias with bifid scrotum | 13q32.3q34 | 30.4 Mb | deletion | pathogenic | TOP |
1b * | CIII PI 37 y/o NT 3.6 mm; CRL 66 mm cFTS: high risk | 16 | NB hypoplasia, ventriculomegaly, CCA, NF, hypotelorism, PE, hypospadias with bifid scrotum | 13q32.3q34 | 30.4 Mb | deletion | pathogenic | TOP |
2 | CI PI 23 y/o cFTS: NA | 20 | NB hypoplasia, abnormal profile, ventricular septal defect, diaphragmatic hernia | 12p13.33p11.21 47,XY,+i(12)(p10) | 33 Mb | amplification | pathogenic (Pallister–Killian syndrome) | TOP |
3 | CIII PI 33 y/o NT 3.0 mm; CRL 75 mm; NB (-) cFTS: high risk | 16 | NB hypoplasia, cleft lip, abnormal posterior fossa, ventricular septal defect | 9p24.3p13.1 47,XY,+i(9) | 38.8 Mb | amplification | pathogenic (tetrasomy 9p) | TOP |
4 | CII PI 33 y/o NT 2.6 mm; CRL 79 mm; NB (-), TR cFTS: high risk | 19 | ventriculomegaly, NB hypoplasia, aberrant right subclavian artery, pulmonary stenosis, TR | 9p24.3p13.2 9q12q21.11 22q11.1q11.22 | 37.3 Mb 5.33 Mb 7.1 Mb | amplification amplification amplification | pathogenic potentially pathogenic | NA |
5 | CIV PI 32 y/o cFTS: NA | 20 | NB hypoplasia, ventriculomegaly, micrognathia, abnormal posterior fossa, empty stomach | 5p15.33p15.32 11q22.3q25 | 5.6 Mb 29.5 Mb | deletion amplification | pathogenic (Cri-du-chat syndrome) pathogenic | TOP |
6 | CI PI 33 y/o cFTS: NA | 16 | NB hypoplasia, ventriculomegaly, hyperechogenic kidneys, SUA | 12q14.3q21.1 | 6.13 Mb | deletion | pathogenic | TOP |
7 | CVI PV 40 y/o NT 2.0 mm; CRL 78mm; NB (-) cFTS: high risk | 17 | NB hypoplasia, micrognathia | 6q14.1q16.3 | 20.4 Mb | deletion | pathogenic | TOP |
8 | CII PI 28 y/o NT 1.4 mm, CRL 53 mm cFTS: low risk | 22 | NB hypoplasia, DORV, PLSVC CCA, club foot | normal CMA | NA | |||
9 | CI PI 21 y/o NT 2.1mm; CRL 50mm, NB(-); TR cFTS: high risk | 15 | NB hypoplasia; tetralogy of Fallot | normal CMA | NA | |||
10 | CIIPII 36 y/o NT 1.0 mm, CRL 71 mm cFTS: low risk | 19 | NB hypoplasia, anomaly of the sacral spine—“human tail” | normal CMA | NA | |||
11 | CII PII 29 y/o NT 2.0 mm, CRL 62 mm cFTS: NA | 19 | NB hypoplasia, severe shortening and bowing of the long bones, trigonocephaly | normal CMA | NA | |||
12 | CVI PII 33 y/o NT 5.0 mm; CRL 65 mm NB(-), foetal oedema, TR cFTS: high risk | 13 (CVS) 16 | NB hypoplasia, body stalk anomaly | CVS: arr(7)x3 AC: normal CMA | trisomy 7 | pathogenic | stillbirth 27 weeks GA | |
13 | CIV PII 32 y/o NT 2.0 mm; CRL 58 mm cFTS: NA | 19 | NB hypoplasia, hypotrophy | triploidy 69,XXY | pathogenic | TOP | ||
14 | CV PII 37 y/o NT 1.2 mm; CRL 55 mm cFTS: low risk | 20 | NB hypoplasia, SUA, skeletal defects, shortening of long bones, cerebellar hypoplasia, preaxial polydactyly in the feet, ventricular septal defect, hypospadias with bifid scrotum | 7p12.3p14.1 | 7 Mb | deletion | pathogenic (Greig cephalopolysyndactyly syndrome) | TOP |
15 | CI PI 32 y/o cFTS: NA | 17 | NB hypoplasia, omphalocele, diaphragmatic hernia | 4q28.2q28.3 | 1.8 Mb | deletion | potentially pathogenic | TOP |
16 | CII PII 32 y/o cFTS: NA | 18 | NB hypoplasia, NF, polydactyly, kidney hypoplasia, cerebellum abnormality | normal CMA | NA | |||
17 | CII PII 37 y/o cFTS: NA | 18 | NB hypoplasia, SUA, shortening of long bones, hypospadias, hyperechogenic kidneys, cerebellar vermis hypoplasia | normal CMA | NA | |||
18 | CI PI 24 y/o cFTS: NA maternal cleidocranial dysplasia | 19 | NB hypoplasia, hypertelorism, shortening of long bones, significantly shortened clavicles, small shoulder blades | normal CMA cleidocranial dysplasia | LB, 39 weeks GA, 2690 g, cleidocranial dysplasia | |||
19 | CII PII 34 y/o cFTS: NA maternal focal dermal hypoplasia | 16 | NB hypoplasia, retrognathia, hand cleft, syndactyly 2 and 3 fingers of both hands, syndactyly 4 and 5 left hand, splits of the left foot, pulmonary stenosis | normal CMA focal dermal hypoplasia | LB, 36 weeks GA, focal dermal hypoplasia | |||
20 | CI PI 30 y/o NT 2.1 mm; CRL 61 mm cFTS: intermediate risk maternal craniofacial-deafness-hand syndrome | 18 | NB hypoplasia, hypertelorism, clinodactyly, ulnar deviations of the fingers, brachydactyly | normal CMA craniofacial-deafness-hand syndrome | NA | |||
21 | CVPII 35 y/o NT 5.4 mm CRL 64 mm cFTS: high risk | 15 | NB hypoplasia, NF, hypotelorism, short ribs, narrow chest, shortening of long bones | normal CMA Jeune syndrome | TOP |
Number of Cases | Normal CMA Results | Abnormal CMA Results (% of Cases) | |
---|---|---|---|
isolated NB hypoplasia | 28 | 26 | 2 (7.1%) |
soft marker + NB hypoplasia | 11 | 10 | 1 (9.1%) |
multiple abnormalities + NB hypoplasia | 21 | 9 | 12 (57%) |
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Moczulska, H.; Serafin, M.; Wojda, K.; Borowiec, M.; Sieroszewski, P. Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes. J. Clin. Med. 2022, 11, 1513. https://doi.org/10.3390/jcm11061513
Moczulska H, Serafin M, Wojda K, Borowiec M, Sieroszewski P. Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes. Journal of Clinical Medicine. 2022; 11(6):1513. https://doi.org/10.3390/jcm11061513
Chicago/Turabian StyleMoczulska, Hanna, Marcin Serafin, Katarzyna Wojda, Maciej Borowiec, and Piotr Sieroszewski. 2022. "Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes" Journal of Clinical Medicine 11, no. 6: 1513. https://doi.org/10.3390/jcm11061513
APA StyleMoczulska, H., Serafin, M., Wojda, K., Borowiec, M., & Sieroszewski, P. (2022). Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes. Journal of Clinical Medicine, 11(6), 1513. https://doi.org/10.3390/jcm11061513