Uniparental Disomy (UPD): A Rare Genetic Condition Explained

Genetics plays a vital role in fertility, pregnancy, and the health of a baby. While most babies inherit one copy of each chromosome from the mother and one from the father, sometimes unusual genetic conditions can occur. One such condition is Uniparental Disomy (UPD).

At Aashakiran IVF Pvt. Ltd. – North India’s most trusted and fastest-growing IVF chain, our expert team including Dr. Asmita Mahla (Medical Director, 20+ years experience), Dr. Jagjit Singh (Executive Director), and Dr. Shivani (Obs & Gynae) ensure comprehensive genetic screening and counseling for couples, especially in IVF and high-risk pregnancies.

🧬 What is Uniparental Disomy (UPD)?

Uniparental Disomy (UPD) occurs when a child inherits both copies of a chromosome (or part of it) from one parent, instead of one copy from each parent.

Normally: 23 chromosomes from the mother + 23 chromosomes from the father = 46 total.
In UPD: Both chromosomes of a pair come from only one parent.

This can affect the child’s development depending on which chromosome is involved.

🔎 Types of UPD

Heterodisomy – Both chromosomes are from the same parent but are different copies (e.g., mother’s chromosome 7 pair).
Isodisomy – Both chromosomes are identical copies from the same parent.

⚠️ Causes of UPD

UPD usually happens due to errors in cell division:

Trisomy rescue – When a fertilized egg has 3 copies of a chromosome and one copy gets removed, sometimes both remaining copies come from one parent.
Monosomy rescue – When a missing chromosome is duplicated from the single parent’s chromosome.
Gamete errors – Abnormalities in egg or sperm during fertilization.

🩺 Health Implications of UPD

Not all UPD cases cause problems. It depends on the chromosome involved and whether important “imprinted genes” (genes expressed only from one parent) are affected.

Some known conditions linked to UPD:

Prader-Willi Syndrome (paternal chromosome 15 missing, both copies from mother).
Angelman Syndrome (maternal chromosome 15 missing, both copies from father).
Cystic Fibrosis (can occur if both copies of a recessive gene are inherited from one parent).
Growth abnormalities, developmental delays, or metabolic disorders in rare cases.

🧪 Diagnosis of UPD

At Aashakiran IVF, specialized genetic testing can help detect UPD:

Karyotyping & Chromosomal Microarray Analysis (CMA).
Methylation studies for imprinting disorders.
DNA sequencing for specific genetic syndromes.

👶 UPD in IVF & Pregnancy

UPD is rare but can occur in natural and assisted pregnancies.
IVF allows genetic testing (PGT – Preimplantation Genetic Testing) before embryo transfer, which reduces the risk of chromosomal abnormalities.
Couples with a history of unexplained miscarriages or genetic conditions are advised to undergo genetic counseling.

✅ Management & Care

Not all UPD leads to disease – many children with UPD grow healthy and normal.
If UPD is detected, early medical monitoring and therapies help manage potential complications.
Counseling & support for parents is crucial to plan future pregnancies safely.

❓ FAQs on UPD

Q1. Is UPD common?
No, it is a rare condition, estimated in less than 1 in 2,000 births.

Q2. Can UPD be prevented?
It cannot always be prevented, but IVF with PGT testing significantly reduces the risk of transferring embryos with chromosomal issues.

Q3. Should couples with UPD history undergo genetic counseling?
Yes. Genetic counseling is highly recommended before planning another pregnancy.

💜 Aashakiran IVF – Expert Care with Compassion

At Aashakiran IVF Pvt. Ltd., we combine advanced genetic testing, fertility treatments, and expert counseling to help couples achieve safe pregnancies. With centers across Kharar, Ludhiana, Amritsar, and Bathinda, our specialists are committed to guiding families with rare genetic conditions like UPD.

📍 Visit us at Kharar | Ludhiana | Amritsar | Bathinda
📞 Call: 872-8080-222 for appointments
📲 Follow us for tips & updates: Facebook, Instagram, and Twitter.
🌐 Learn more: www.aashakiranivf.com