Understanding Imprinting Disorders: When Genes Don’t “Behave” as They Should

Every cell in our body carries genetic instructions that guide growth and development. Normally, we inherit one copy of each gene from our mother and one from our father — both equally active.
However, in rare cases, certain genes are “imprinted”, meaning only one copy (either maternal or paternal) should be active while the other remains silent.

When this delicate balance is disturbed, imprinting disorders occur — affecting growth, development, and sometimes fertility.

At Aashakiran IVF Pvt. Ltd. – North India’s most trusted and fastest-growing IVF chain, our experts use advanced genetic testing, fetal screening, and preimplantation genetic diagnosis (PGT) to identify and manage such rare genetic conditions under the guidance of Dr. Asmita Mahla (Medical Director, 20+ years experience).

🧫 What Are Imprinting Disorders?

Imprinting disorders are a group of genetic conditions caused by abnormal expression of imprinted genes, which are supposed to be active from only one parent.
These errors can result from:

Missing or duplicated chromosomal segments (deletions or uniparental disomy).
Epigenetic changes (DNA methylation defects).
Structural abnormalities in chromosomes.

Simply put — the “on/off switch” for certain genes gets wrongly set, leading to developmental and metabolic issues in the baby.

⚠️ Common Imprinting Disorders

Here are some well-known imprinting disorders affecting children and pregnancy outcomes:

1. Prader-Willi Syndrome (PWS)

Cause: Loss of active genes on the paternal chromosome 15 (15q11–q13).
Features: Poor muscle tone, feeding issues in infancy, obesity, and learning difficulties.
Testing: DNA methylation and microdeletion analysis.

2. Angelman Syndrome (AS)

Cause: Loss of maternal genes on chromosome 15q11–q13.
Features: Severe developmental delay, happy demeanor, seizures, and speech impairment.
Detection: Genetic testing and methylation studies.

3. Beckwith-Wiedemann Syndrome (BWS)

Cause: Imprinting defect on chromosome 11p15.
Features: Overgrowth, large tongue (macroglossia), abdominal wall defects, and tumor risk.
Relevance in IVF: Slightly higher frequency seen in ART pregnancies; hence monitored closely.

4. Silver-Russell Syndrome (SRS)

Cause: Hypomethylation on chromosome 11p15 or maternal uniparental disomy of chromosome 7.
Features: Poor growth before and after birth, feeding problems, triangular face.

5. Transient Neonatal Diabetes Mellitus (TNDM)

Cause: Abnormal imprinting at chromosome 6q24.
Features: High blood sugar in newborn period, usually resolves by 3–6 months.

🔍 Diagnosis and Detection

At Aashakiran IVF, we use cutting-edge diagnostic tools to identify imprinting disorders early:

Methylation-specific PCR / MLPA testing – to detect epigenetic errors.
Chromosomal Microarray (CMA) – to identify deletions or duplications.
Uniparental Disomy (UPD) testing – to confirm abnormal inheritance from one parent.
Preimplantation Genetic Testing (PGT) during IVF – to screen embryos for known genetic or imprinting defects before transfer.

👶 Imprinting Disorders and Assisted Reproduction

While IVF and ICSI are safe and effective, some research suggests a slightly increased risk of imprinting disorders in ART-conceived babies.
This may be linked to:

Epigenetic changes during early embryo culture.
Use of frozen gametes or embryos.
Underlying infertility factors rather than IVF itself.

At Aashakiran IVF, every step — from gamete handling to embryo transfer — follows internationally certified laboratory protocols, ensuring the highest genetic and epigenetic safety for every baby born through ART.

🩺 Management & Genetic Counseling

Although most imprinting disorders are not curable, early detection and multidisciplinary management help improve quality of life.

At Aashakiran IVF, we provide:

Prenatal screening and fetal evaluation to detect imprinting-related abnormalities early.
Genetic counseling for couples with previous affected pregnancies or family history.
PGT and advanced IVF options to prevent recurrence.
Supportive guidance for families raising children with imprinting conditions.

💜 Hope Through Awareness & Advanced Genetics

Understanding imprinting disorders empowers couples to make informed reproductive choices. With early testing and expert guidance, it’s possible to plan safer, healthier pregnancies.

At Aashakiran IVF Pvt. Ltd., our focus is not only on conception but also on ensuring genetic wellness, emotional support, and holistic care at every stage of your journey to parenthood.

📍 Visit us at Kharar | Ludhiana | Amritsar | Bathinda
📞 Call: 872-8080-222 for appointments
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🌐 Learn more: www.aashakiranivf.com