Int J Clin Pediatr

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 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).

**Table 1.** Results of Stepwise Sequential Screen
Step	Test (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.
1	PAPP-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
2	MSAFP (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 1. Results of Stepwise Sequential Screen

Step

Test (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.

PAPP-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

MSAFP (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 appearance	Alert, active, no distress
Head	Normocephalic, anterior fontanel open and flat
Eyes	Conjunctiva clear, positive red reflex bilaterally
Ears	Normally placed, no anomalies
Nose	Nares patent
Mouth	Palate intact
Respiratory	Breath sounds clear and equal without grunting, flaring, or retractions
Cardiovascular	Regular rate and rhythm without murmur. Normal capillary refill, femoral pulses present
Abdomen	Soft, non-distended without masses or hepatosplenomegaly. Bowel sounds present
Genitourinary	Normal genitalia with perineal groove from labia to anus at 12 o’clock
Spine	No hair tufts or dimples
Musculoskeletal	Normal hips
Skin/hair/nails	Skin warm, dry, and intact without rashes
Neurologic	Normal tone and reflexes

Table 2. Discharge Physical Exam on the Third Day of Life, Normal Except for the Perineal Groove

General appearance

Alert, active, no distress

Head

Normocephalic, anterior fontanel open and flat

Eyes

Conjunctiva clear, positive red reflex bilaterally

Ears

Normally placed, no anomalies

Nose

Nares patent

Mouth

Palate intact

Respiratory

Breath sounds clear and equal without grunting, flaring, or retractions

Cardiovascular

Regular rate and rhythm without murmur. Normal capillary refill, femoral pulses present

Abdomen

Soft, non-distended without masses or hepatosplenomegaly. Bowel sounds present

Genitourinary

Normal genitalia with perineal groove from labia to anus at 12 o’clock

Spine

No hair tufts or dimples

Musculoskeletal

Normal hips

Skin/hair/nails

Skin warm, dry, and intact without rashes

Neurologic

Normal 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 tested	Result	Reference range (for newborns)
^aCombinations of hemoglobin A and hemoglobin F. ERU: enzyme response unit; WNL: within normal limits.
Congenital adrenal hyperplasia/17-OH progesterone	5.0 ng/mL	< 25 ng/mL
Hypothyroidism/thyroxine	19.4 µg/dL	> 6.0 µg/dL
Galactosemia/galactose	2.5 mg/dL	< 15 mg/dL
Galactosemia/uridyltransferase	427.0 µM	≥ 40 µM
Hemoglobinopathies/hemoglobin isoelectric focusing	FA	FA, AF or A^a
Maple syrup urine disorder/leucine	WNL
MPS-1	WNL
Phenylketonuria/phenylalanine	WNL
Pompe	WNL
Spinal muscular atrophy	WNL
X-linked adrenoleukodystrophy	WNL
Acylcarnitine profile	WNL
Amino acid profile	WNL
Biotinidase deficiency	48.0 ERU	> 16.0 ERU
Cystic fibrosis/immunoreactive trypsinogen	WNL
G6PD DNA analysis	WNL

Table 3. Results of the Pennsylvania Department of Health Mandatory Congenital Disorder Screening Plus Supplemental Newborn Screening

Target congenital disorder/primary analyte tested

Result

Reference range (for newborns)

^aCombinations of hemoglobin A and hemoglobin F. ERU: enzyme response unit; WNL: within normal limits.

Congenital adrenal hyperplasia/17-OH progesterone

5.0 ng/mL

< 25 ng/mL

Hypothyroidism/thyroxine

19.4 µg/dL

> 6.0 µg/dL

Galactosemia/galactose

2.5 mg/dL

< 15 mg/dL

Galactosemia/uridyltransferase

427.0 µM

≥ 40 µM

Hemoglobinopathies/hemoglobin isoelectric focusing

FA, AF or A^a

Maple syrup urine disorder/leucine

WNL

MPS-1

WNL

Phenylketonuria/phenylalanine

WNL

Pompe

WNL

Spinal muscular atrophy

WNL

X-linked adrenoleukodystrophy

WNL

Acylcarnitine profile

WNL

Amino acid profile

WNL

Biotinidase deficiency

48.0 ERU

> 16.0 ERU

Cystic fibrosis/immunoreactive trypsinogen

WNL

G6PD DNA analysis

WNL