Role of Sonographic Second Trimester Soft Markers in the Era of Cell-Free DNA Screening Options: A Review
Abstract
:1. Introduction
2. Soft Markers
2.1. Absent or Hypoplastic Nasal Bone
2.2. Intracardiac Echogenic Focus
2.3. Ventriculomegaly
2.4. Thickened Nuchal Fold
2.5. Choroid Plexus Cyst
2.6. Echogenic Bowel
2.7. Urinary Tract Dilation
2.8. Shortened Long Bones
Soft Markers | Imaging Criteria |
---|---|
Absent or hypoplastic nasal bone (NB) | The midsagittal plane of the fetal profile should be defined as hypoplastic when it is either absent or with a length of less than 2.5 mm [20]. |
Echogenic intracardiac foci (EIF) | Hyperechogenicity of fetal soft tissue greater than or equal in brightness to the surrounding bone [23] |
Mild to moderate ventriculomegaly (VM) | Measured in an axial transventricular plane at the atrium of the posterior horn with calipers placed over the inner edges [31]. Ventriculomegaly is categorized as mild between 10 and 11.9 mm), moderate between 12 and 14.9 mm [31]. |
Thickened nuchal fold (NF) | Greater than or equal to 6 mm from the outer edge of the occipital bone to the outer skin in the midline at 15–20 weeks [40,41]. |
Choroid plexus cyst (CPC) | Cyst of ≥ 5 mm in one or both choroid plexus(es) [48,49]. |
Echogenic bowel (EB) | Fetal intestines display echogenicity equal to or greater than that of the adjacent bone [61,62]. |
Urinary tract dilation (UTD) | Renal pelvis measuring >4 mm in anterior–posterior renal pelvis diameter up to 20 weeks of gestation [68]. |
Shortened long bones | Measurement, 2.5th percentile for gestational age [72,73]. |
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Soft Marker | Screening Tests | Society for Maternal-Fetal Medicine (SMFM), 2021 | American College Obstetrics and Gynecology (ACOG), 2020 | Perinatal Services BC, 2020 |
---|---|---|---|---|
Absent or hypoplastic nasal bone | cfDNA | If negative: no further testing | If negative: no further testing | Genetic counseling. |
Serum screen | If negative: no further testing vs noninvasive vs invasive testing for aneuploidy. | If negative: no further testing | Genetic counseling. | |
No previous screening/other recommendations | Counseling for noninvasive vs invasive testing for aneuploidy | Detailed ultrasound to assess fetal anatomy. Genetic counseling. Offer aneuploidy testing. | Genetic counseling. | |
Echogenic intracardiac foci | cfDNA | If negative: no further testing | If negative: no further testing | If negative: no further testing |
Serum screen | If negative: no further testing | If negative: no further testing | If negative ((SIPS/IPS/Quad): no further testing | |
No previous screening/other recommendations | Counseling for noninvasive tests for aneuploidy | If isolated, aneuploidy tests should be offered. | Offer Quad screening. | |
Mild to moderate ventriculomegaly | cfDNA | Consider cf-DNA for patients who decline diagnostic testing after counseling about the limitations of this approach. If ventriculomegaly is detected, SMFM recommends that diagnostic testing (amniocentesis) with chromosomal micro-array. | If negative: no further testing | Fetal Diagnosis Service |
Serum screen | Independently of the result, offer diagnostic testing | If negative: no further testing | Fetal Diagnosis Service | |
No previous screening/other recommendations | Offer diagnostic test | Detailed anatomic survey. Genetic counseling. Offer diagnostic tests for genetic conditions, CMV, fetal MRI and US in third trimester. | Fetal Diagnosis Service | |
Thickened nuchal fold | cfDNA | If negative: no further testing | If negative: no further testing | |
Serum screen | If negative: no further tests vs noninvasive vs invasive tests for aneuploidy | If negative: no further testing | ||
No previous screening/other recommendations | Counseling for noninvasive vs invasive testing for aneuploidy | Detailed anatomic survey. Genetic counseling. Aneuploidy testing should be offered if not previously performed. | Genetic counseling. | |
Choroid plexus cyst | cfDNA | If negative: no further testing | If negative: no further testing | If negative: no further testing |
Serum screen | If negative: no further testing | If negative: no further testing | If negative ((SIPS/IPS/Quad): no further testing | |
No previous screening/other recommendations | Counseling for noninvasive testing for aneuploidy | Offer aneuploidy testing. | Offer Quad screening. Genetic counseling is recommended only if CPC is seen in combination with other structural abnormalities or FGR. | |
Echogenic bowel | cfDNA | If negative: no further testing | If negative: no further testing | Genetic counseling. |
Serum screen | If negative: no further testing | If negative: no further testing | Genetic counseling. | |
No previous screening/other recommendations | Counselingfor noninvasive testing for aneuploidy. Third trimester scan for evaluation of fetal growth. | Detailed anatomic evaluation. Genetic counseling. Offer CMV, CF, and aneuploidy testing. Consider follow up US for fetal growth because of the association with FGR. | Genetic counseling. | |
Urinary tract dilation | cfDNA | If negative: no further testing | If negative: no further testing | If negative: no further testing. |
Serum screen | If negative: no further testing | If negative: no further testing | If negative (SIPS/IPS/Quad or NIPT): no further testing | |
No previous screening/other recommendations | No previous screening: counseling for noninvasive testing for aneuploidy. Third trimester ultrasound examination to determine if postnatal pediatric nephrology or urology follow-up is needed. | Offer aneuploidy testing. Repeat US in third trimester to assess need for postnatal imaging. | Offer Quad screening and postnatal renal scan between 5 and 30 days of age. | |
Shortened long bones | cfDNA | If negative: no further testing | If negative: no further testing | If negative: no further testing |
Serum screen | If negative: no further testing | If negative: no further testing | If negative (SIPS/IPS/Quad or NIPT): no further testing | |
No previous screening/other recommendations | Counseling for noninvasive testing for aneuploidy. Third trimester ultrasound examination for reassessment and evaluation of growth. | Offer aneuploidy testing. Consider repeat US in third trimester for fetal growth. | Offer Quad screening. |
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Taliento, C.; Salmeri, N.; Greco, P.; Morano, D. Role of Sonographic Second Trimester Soft Markers in the Era of Cell-Free DNA Screening Options: A Review. Reprod. Med. 2022, 3, 222-234. https://doi.org/10.3390/reprodmed3030017
Taliento C, Salmeri N, Greco P, Morano D. Role of Sonographic Second Trimester Soft Markers in the Era of Cell-Free DNA Screening Options: A Review. Reproductive Medicine. 2022; 3(3):222-234. https://doi.org/10.3390/reprodmed3030017
Chicago/Turabian StyleTaliento, Cristina, Noemi Salmeri, Pantaleo Greco, and Danila Morano. 2022. "Role of Sonographic Second Trimester Soft Markers in the Era of Cell-Free DNA Screening Options: A Review" Reproductive Medicine 3, no. 3: 222-234. https://doi.org/10.3390/reprodmed3030017