Screening for Birth Defect at Delivery Point

1. Introduction

Screening at delivery points is the first line of defense in reducing neonatal mortality and long-term disability due to congenital anomalies. In India, this is governed by the Rashtriya Bal Swasthya Karyakram (RBSK) under the "4 Ds" approach (Defects at birth, Deficiencies, Diseases, Developmental delays).

2. Objectives

• Early identification of visible structural anomalies.
• Detection of critical hidden defects (e.g., CCHD, Cataract).
• Timely referral to District Early Intervention Centers (DEIC).

3. Screening Components (Head-to-Toe Approach)

Screening is performed by the Medical Officer, Staff Nurse, or ANM within the first 48 hours.

A. Visible Structural Defects

• Head & Neck: Cleft lip/palate, Microcephaly, Encephalocele, Low-set ears.
• Eyes: Congenital cataract (Red reflex test), Anophthalmia.
• Back/Spine: Neural tube defects (Meningomyelocele), Spina bifida occulta (sacral dimple/tuft of hair).
• Abdomen: Omphalocele, Gastroschisis.
• Genitalia/Anorectal: Ambiguous genitalia, Imperforate anus (check patency), Hypospadias.
• Musculoskeletal: Congenital Talipes Equinovarus (Clubfoot), Polydactyly/Syndactyly, Limb reduction defects.

B. Functional Assessment

• Sucking Reflex: To assess neurological state and cleft palate.
• Micturition stream: To rule out Posterior Urethral Valves (PUV).
• Passing Meconium: To rule out lower GI obstruction.

C. Screening for "Hidden" Defects

• Developmental Dysplasia of the Hip (DDH): Ortolani and Barlow maneuvers.
• Critical Congenital Heart Disease (CCHD): Pulse Oximetry Screening (pre- and post-ductal saturation) after 24 hours.

4. The RBSK Priority List (Visible Birth Defects)

RBSK specifically mandates screening for these high-priority conditions at the delivery point:

1. Neural Tube Defects
2. Down Syndrome (Dysmorphic facies)
3. Cleft Lip & Palate
4. Talipes (Clubfoot)
5. Developmental Dysplasia of the Hip
6. Congenital Cataract
7. Congenital Deafness (OAE screening where available)
8. Congenital Heart Diseases

5. Documentation and Referral Pathway

1. Flagging: Any positive finding is marked in the MCP (Mother & Child Protection) Card and the Delivery Point Register.
2. Referral: Symptomatic or critical defects (e.g., imperforate anus, cyanosis) require immediate transfer to a SNCU/NICU.
3. Follow-up: Stable defects (e.g., Clubfoot, Cleft lip) are referred to the DEIC for planned intervention.