International Journal of Clinical Pediatrics, ISSN 1927-1255 print, 1927-1263 online, Open Access
Article copyright, the authors; Journal compilation copyright, Int J Clin Pediatr and Elmer Press Inc
Journal website https://www.theijcp.org

Case Report

Volume 9, Number 4, December 2020, pages 110-115


Perineal Groove in a Neonate With Increased Maternal Serum Alpha-Fetoprotein

Figure

Figure 1.
Figure 1. Perineal groove in a female neonate at 3 days of life. The anterior/superior aspect of the groove is formed by hypertrophied minoral tails (double arrows) and courses posteriorly/inferiorly to the anal verge (single arrows).

Tables

Table 1. Results of Stepwise Sequential Screen
 
StepTest (GA)Value
PAPP-A: pregnancy-associated plasma protein A; MoM: multiples of median; beta-hCG: beta human chorionic gonadotropin; NT: nuchal translucency; CRL: crown rump length; MSAFP: maternal serum alpha-fetoprotein; GA: gestational age.
1PAPP-A (13 weeks and 1 day by dates)0.20 MoM (↓)
Beta-hCG (13 weeks and 1 day by dates)0.41 MoM
NT (12 weeks and 5 days by dates, 12 weeks and 3 days by CRL)0.78 MoM
2MSAFP (17 weeks and 1 day by dates)3.12 MoM (↑)
Beta-hCG (17 weeks and 1 day by dates)1.26 MoM
Estriol (17 weeks and 1 day by dates)1.31 MoM
Inhibin-A (17 weeks and 1 day by dates)2.13 MoM (↑)

 

Table 2. Discharge Physical Exam on the Third Day of Life, Normal Except for the Perineal Groove
 
General appearanceAlert, active, no distress
HeadNormocephalic, anterior fontanel open and flat
EyesConjunctiva clear, positive red reflex bilaterally
EarsNormally placed, no anomalies
NoseNares patent
MouthPalate intact
RespiratoryBreath sounds clear and equal without grunting, flaring, or retractions
CardiovascularRegular rate and rhythm without murmur. Normal capillary refill, femoral pulses present
AbdomenSoft, non-distended without masses or hepatosplenomegaly. Bowel sounds present
GenitourinaryNormal genitalia with perineal groove from labia to anus at 12 o’clock
SpineNo hair tufts or dimples
MusculoskeletalNormal hips
Skin/hair/nailsSkin warm, dry, and intact without rashes
NeurologicNormal tone and reflexes

 

Table 3. Results of the Pennsylvania Department of Health Mandatory Congenital Disorder Screening Plus Supplemental Newborn Screening
 
Target congenital disorder/primary analyte testedResultReference range (for newborns)
aCombinations of hemoglobin A and hemoglobin F. ERU: enzyme response unit; WNL: within normal limits.
Congenital adrenal hyperplasia/17-OH progesterone5.0 ng/mL< 25 ng/mL
Hypothyroidism/thyroxine19.4 µg/dL> 6.0 µg/dL
Galactosemia/galactose2.5 mg/dL< 15 mg/dL
Galactosemia/uridyltransferase427.0 µM≥ 40 µM
Hemoglobinopathies/hemoglobin isoelectric focusingFAFA, AF or Aa
Maple syrup urine disorder/leucineWNL
MPS-1WNL
Phenylketonuria/phenylalanineWNL
PompeWNL
Spinal muscular atrophyWNL
X-linked adrenoleukodystrophyWNL
Acylcarnitine profileWNL
Amino acid profileWNL
Biotinidase deficiency48.0 ERU> 16.0 ERU
Cystic fibrosis/immunoreactive trypsinogenWNL
G6PD DNA analysisWNL