Table 1 Abnormal ultrasound findings, karyotype and outcome in cases with first trimester ventriculomegaly
From: Approach to the sonographic evaluation of fetal ventriculomegaly at 11 to 14 weeks gestation
No. | GA | NT (mm) | Additional abnormal ultrasound findings | Karyotype | Outcome |
|---|---|---|---|---|---|
1 | 12 + 5 | 1.9 | None | 46 XY | 1st trimester TOP |
2 | 13 + 2 | 2.7 | None | 46 XX | 1st trimester TOP |
3 | 13 + 1 | 1.7 | None | unknown | 1st trimester TOP |
4 | 12 + 6 | 1.4 | None at initial evaluation, Agenesis of the corpus callosum (diagnosed at 20 weeks) | 46 XY | 2nd trimester TOP |
5 | 13 + 2 | 2.3 | None at initial evaluation, Dandy-Walker malformation (diagnosed at 15 weeks) | 46 XX | Live born 32 + 5 |
6 | 12 + 5 | 1.7 | Megacisterna magna (diagnosed with Dandy-Walker malformation at 20 weeks) | 46 XY | 2nd trimester TOP |
7 | 13 + 1 | 1.5 | Encephalocele | POMT1-mutation (Walker-Warburg syndrome) | 1st trimester TOP |
8 | 13 + 3 | 1.5 | Occipital meningocele, megacisterna magna (diagnosed with Dandy-Walker malformation, abnormal fetal profile and short limbs at 16 weeks) | 46 XY | 2nd trimester TOP |
9 | 12 + 0 | 3.0 | Spina bifida, tetralogy of Fallot, right aortic arch, bilateral hydronephrosis, hexadactyly | 46 XY | 1st trimester TOP |
10 | 12 + 3 | 1.6 | Semilobar holoprosencephaly, median facial cleft, hexadactyly | 46 XX | 1st trimester TOP |
11 | 12 + 4 | 3.0 | Hexadactyly, bilateral cleft, absent nasal bone, VSD, common arterial trunc | Trisomy 13 | 1st trimester TOP |
12 | 13 + 1 | 3.7 | Bilateral cleft, hexadactyly, omphalocele, single umbilical artery | Trisomy 13 | 1st trimester TOP |
13 | 12 + 6 | 2.8 | Iniencephaly, VSD, absent pulmonary valve syndrome, wrist drop, limb fixation | Trisomy 18 | 1st trimester TOP |
14 | 13 + 5 | 5.1 | Artrio-ventricular septal defect | Trisomy 21 | 1st trimester TOP |
15 | 13 + 1 | 2.8 | Semilobar holoprosencephaly, median cleft, unilateral anopthalmy | unknown | 1st trimester TOP |
16 | 12 + 4 | 4.0 | Spina bifida, omphalocele, cardiac anomaly | unknown | 1st trimester TOP |
17 | 12 + 1 | 7.2 | Megacisterna magna, bilateral cleft, bilateral pyelectasia | unknown | 1st trimester TOP |