Table I.
Prenatal findings in 53 cases from our cohort and the literature.
| Case | IUGR | Limbs | Face | CDH | CHD | Inc NT/NF | Low PAPP-A |
|---|---|---|---|---|---|---|---|
| Ackerman and Gilbert-Barness, 1997 | + (20) | + (20) | + (20) | + (20) | |||
| Boog et al., 1999 | + (20) | + (20) | + (20) | ||||
| Goolsby et al., 1995 | + (17) | + (17) | |||||
| Le Vaillant et al., 2004 | + (20) | + (20) | + (20) | VSD (28) | − (10) | ||
| Lee et al., 2002 | + (19) | + (19) | + (19) | ToF (19) | |||
| Manouvrier et al., 1996 (Case 1) | + (32) | ||||||
| Manouvrier et al., 1996 (Case 2) | + (32) | + (32) | + (32) | ||||
| Manouvrier et al., 1996 (Case 3) | + (33) | + (33) | + (33) | ||||
| Price et al., 2005 | + (21) | + (21) | + (21) | ||||
| Ranzini et al., 1997 | + (34) | + (34) | + (34) | ||||
| Urban and Hartung, 2001 | − (22) | + (22) | + (22) | ||||
| Applewhite et al., 2003 | + (21) | + (21) | + (21) | VSD (21) | + (21) | ||
| Arbuzova et al., 2003 | + (22) | + (22) | − (22) | + 0.20 MoM (11) | |||
| Bruner and Hsia, 1990 | + (16) | ||||||
| Cunniff et al., 1993 | + (27) | + (27) | |||||
| Drolshagen et al., 1992 | + (14) | + (27) | ToF (27) | ||||
| Hulinsky et al., 2005 | + (26) | + (20) | + (20) | + (20) | |||
| Jelsema et al., 1993 | + (28) | + (28) | + (18) | ||||
| Lacourt et al., 1977 | + (27) | ||||||
| Marino et al., 2002 (Case 1) | + (19) | + (19) | + (19) | + (19) | |||
| Marino et al., 2002 (Case 2) | − (18) + (28) | + (18) | + (18) | ||||
| Sekimoto et al., 2000 | + (21) | + (21) | + 8mm (11) | ||||
| Huang and Porto, 2002 | + (19) | + (22) | + (22) | + 6.4mm (11) | |||
| Lemire, 2006 | + (23) | + (23) | + (32) | + (19) | |||
| Lalatta et al., 2007 (Case 1) | − (22) | + (22) | + (22) | + (22) | |||
| Lalatta et al., 2007 (Case 2) | + (34) | ||||||
| Kennelly and Moran 2007 (Case 1) | +(20) | +(20) | +(20) | ||||
| Kennelly and Moran 2007 (Case 2) | +(22) | +(22) | |||||
| Niu et al., 2006 | +(28) | − 0.7 mm (13) | |||||
| Case 01* | - | + (19) | + (17) | - | - | − (11) | |
| Case 02* | + (23) | + (23) | + (23) | + (23) | - | ||
| Case 03* | + (20) | + (20) | + (20) | - | VSD/ASD (20) | ||
| Case 04* | + (19) | + (33) | - | + (33) | - | ||
| Case 05* | + (27) | + (27) | + (27) | - | Complex CHD (27) | ||
| Case 06* | + (24) | + | - | - | - | ||
| Case 07* | − (18) + (32) | − (32) | - | - | - | − 1.1mm | + 0.16 MoM (14) |
| Case 08* | − (20) | - | - | - | - | + 6.7mm (20) | |
| Case 09* | − (17) + (23) | - | - | - | - | ||
| Case 10* | + (20) | + (20) | + (20) | + (20) | ToF (20) | ||
| Case 11* | + (19) | - | - | - | - | ||
| Case 12* | + (30) | - | - | - | Tortuous aortic arch (30) | ||
| Case 13* | − (18) + (33) | - | + (18) | - | - | −(19) | |
| Case 14* | + (18) | + (28) | + (28) | - | - | ||
| Case 15* | + (23) | + (20) | + (20) | + (20) | - | ||
| Case 16* | + (35) | + (15) | + (32) | - | VSD (21) | + 3.3mm (12) | |
| Case 17* | + (20) | + (20) | - | - | - | ||
| Case 18* | - | - | - | - | - | − 1.56 mm | − 1.24 MoM |
| Case 19* | +(19) | +(19) | +(19) | - | - | ||
| Case 20* | +(21) | - | + (21) | - | - | ||
| Case 21* | +(19) | +(28) | +(28) | - | |||
| Case 22* | − (19) + (30) | - | - | - | - | − (12) | − 0.81 MoM (11) |
| Case 23* | − (18) | − (18) | - | - | - | ||
| Case 24* | - | - | - | - | - | - |
Number in parentheses represents gestational age.
All new cases reported in this paper also have individual case synopses that can be found in Supplemental Digital Content 1.
'+' indicates presence of feature;'−' indicated absence of feature. Blank spaces indicated findings that were not reported (although in many cases, such as diaphragmatic hernias, it can be presumed that the finding not being mentioned is likely to indicate that it was not present).
PAPP-A, pregnancy associated plasma protein-A; IUGR, intrauterine growth retardation; CDH, congenital diaphragmatic hernia; CHD, congenital heart disease; MoM, multiples of the median; NT, nuchal translucency (1st trimester); NF, nuchal fold (2nd trimester); ASD, atrial septal defect; VSD, ventricular septal defect.